A/J

Stock No:: 000646

Also Known As: A, AJ

A/J inbred mice are widely used to model cancer and for carcinogen testing given their high susceptibility to carcinogen-induced tumors. Other uses include hybridoma production for immunology applications, cardiovascular research, developmental biology (low background incidence of cleft palate; high susceptibility to cortisone-induced cleft palate) and sensorineural given their early hearing loss.

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Genetic overview

Genetic Background	Generation
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Mouse/Human Gene Homologs
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Neurobiology Research
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Details

Important Note

This strain is homozygous for Cdh23^ahl, the age related hearing loss 1 mutation, and ahl4, which on this background result in progressive hearing loss with onset between three and five months of age.

Detailed Description

Developed by LC Strong in 1921 from a cross between a Cold Spring Harbor albino and a Bagg albino, the A/J inbred strain is widely used in cancer and immunology research. It is highly susceptible to cortisone-induced congenital cleft palate. It has a high incidence of spontaneous lung adenomas, and lung tumors readily develop in response to carcinogens. A high percentage of mammary adenocarcinomas (a large proportion of acinar-type) develop in multiparous females. Rare spontaneous myoepitheliomas arising from myoepithelial cells of various exocrine glands have been observed in The Jackson Laboratory substrains.

A/J mice fed an atherogenic diet (1.25% cholesterol, 0.5% cholic acid, and 15% fat) fail to develop atherosclerotic aortic lesions in contrast to several highly susceptible strains of mice (e.g. C57BL/6J, Stock No. 000664; C57L/J, Stock No. 000668, C57BR/cdJ, Stock No. 000667, and SM/J, Stock No. 000687). In addition to atherosclerosis resistance, A/J mice are resistant to diabetes, obesity, insulin resistance and glucose intolerance. On either chow or high fat diet, A/J mice maintain low glucose and insulin levels.

A/J mice develop cigarette smoke-induced emphysema in approximately half the time when compared with C57BL/6J mice. Structural lung damage caused by induced asthma mimics the phenotype found in asthma patients more closely than does the induced damage in BALB/c mice.

A strain characteristic of A/J is a late onset (four to five months) progressive muscular dystrophy as a result of a homozygous retrotransposon insertion in the dysferlin (Dysf) gene. Myofibers in Dysf^prmd homozygotes undergo degeneration and regeneration, and their nuclei are placed centrally. Proximal muscles are more severely affected than distal muscles (Ho M, et al. 2004).

Sequencing of the mitochondrial genome of A/J reveals 10 adenines in a polymorphic adenine repeat sequence in the mt-Tr sequence. This repeat contains nine adenines in NOD/ShiLtJ, A/HeJ, A/WySnJ, and SKH2/J and 10 adenines in A/J, and NZB/B1NJ, and likely enhances the hearing loss associated with the Cdh23^ahl allele (Johnson et al. 2001).

Selected References

Mattson DL. 2001. Comparison of arterial blood pressure in different strains of mice. Am J Hypertens 14(5 Pt 1):405-8PubMed: 11368457 MGI: J:109876
Paigen B; Ishida BY; Verstuyft J; Winters RB; Albee D. 1990. Atherosclerosis susceptibility differences among progenitors of recombinant inbred strains of mice. Arteriosclerosis 10(2):316-23PubMed: 2317166 MGI: J:22615
Timmermans S; Van Montagu M; Libert C. 2017. Complete overview of protein-inactivating sequence variations in 36 sequenced mouse inbred strains. Proc Natl Acad Sci U S A 114(34):9158-9163PubMed: 28784771 MGI: J:244295
Strong LC. 1936. The establishment of the "A" strain of inbred mice J Hered 27:21-24MGI: J:2481
Anunciado RV; Nishimura M; Mori M; Ishikawa A; Tanaka S; Horio F; Ohno T; Namikawa T. 2003. Quantitative trait locus analysis of serum insulin, triglyceride, total cholesterol and phospholipid levels in the (SM/J x A/J)F2 mice. Exp Anim 52(1):37-42PubMed: 12638235 MGI: J:82274
Petkov PM; Cassell MA; Sargent EE; Donnelly CJ; Robinson P; Crew V; Asquith S; Haar RV; Wiles MV. 2004. Development of a SNP genotyping panel for genetic monitoring of the laboratory mouse. Genomics 83(5):902-11PubMed: 15081119 MGI: J:89298

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Genetics

Il3ra^m1

Allele Symbol: Il3ra^m1

Allele Name	mutation 1
Allele Type	Spontaneous
Allele Synonym(s)	Il3ra^m1; mutation 1
Gene Symbol and Name	Il3ra, interleukin 3 receptor, alpha chain
Gene Synonym(s)	Cyrl; SUT-1; hIL-3Ra; IL-3 receptor alpha chain; IL3R; IL3RAY; IL3RX; IL3RY; CD123
Strain of Origin	multiple strains
Chromosome	14
General Note	This allele has been identified in A/J, A/WySnJ, A/HeJ, C58/J, RF/J, AKR/J, SM/J, BUB/BnJ, CE/J, and NZB/B1NJ. see J:24918.
Molecular Note	Sequence analysis revealed A/J mice lack the sequence corresponding to exon 8, which encodes 10 amino acid residues in the extracellular domain. Aberrant splicing was due to a 5 base pair deletion at the branch point in intron 7.

Nrg3^ska

Allele Symbol: Nrg3^ska

Allele Name	scaramanga
Allele Type	Spontaneous
Allele Synonym(s)	scaramanga; Nrg3^ska
Gene Symbol and Name	Nrg3, neuregulin 3
Gene Synonym(s)	HRG3; ska; pro-NRG3; RGD1559678; ska; scaramanga
Strain of Origin	A/J
Chromosome	14
Molecular Note	This allele maps to an interval between the microsatellite markers D14Mit14 and D14Mit80 located at 10.0 cM and 13.5 cM. The mutation identified is a microsatellite repeat within intron 7 of the gene. This simple sequence repeat (SSR) was found to completely cosegregate with the ska phenotype.

Rmcf^s

Allele Symbol: Rmcf^s

Allele Name	MCF sensitive
Allele Type	Spontaneous
Allele Synonym(s)	Rmcf^s; MCF sensitive
Gene Symbol and Name	Rmcf, resistance to MCF virus
Gene Synonym(s)
Strain of Origin	multiple strains
Chromosome	5
General Note	This locus controls resistance and susceptibility of cells in tissue culture to infection by mink cell focus-forming murine leukemia viruses. The allele Rmcf^r determines resistance and occurs in strains DBA/1, DBA/2, and CBA/Ca; the allele Rmcf^s determines susceptibility and occurs in strains AKR/J, C57BL/6, BALB/c, CBA/J, NFS, NZB, 129/J, and many others. Heterozygotes are as resistant as the resistant parent or nearly so. Rmcf is different from and independent of Fv1, a locus that controls susceptibility to infection by ecotropic viruses. Rmcf is located on Chr 5 close to Hm near the centromeric end (J:7108). Rmcf^r protects (AKR x CBA/Ca)F1 and (AKR x DBA/2)F1 hybrids from development of spontaneous thymic lymphomas and reduces the incidence of MCF-induced thymic lymphomas (J:7175). It also reduces susceptibility of cells of Sxv^s/Sxv^r mice to exogenous xenotropic viruses (J:7951). In addition, in strains susceptible to Friend virus-induced erythroleukemia, a condition thought to be due to the replication of MCF virus, Rmcf^r increases resistance to the virus-induced erythroleukemia. It may cause resistance by coding for or regulating the production of an MCF-related envelope glycoprotein that blocks the receptor for MCF viruses (J:8074). This conclusion is reinforced by the findings of Buller et al. (J:8497), who showed that the Rmcf^r allele contains an endogenous MCF gp70 env gene and that the Rmcf^s allele, at least in some strains (C57BL/6, CBA/J, and A/WySn), contains a xenotropic gp70 env gene. Presumably the MCF gp70 inhibits exogenous MCF infection in vitro by a mechanism of viral interference.
Molecular Note	This locus controls resistance of cells to infection by mink cell focus-forming murine leukemia viruses. The recessive s (susceptible) allele is found in AKR/J, C57BL/6, BALB/c, CBA/J, NFS, NZB and 129/J.

Cs^ahl4

Allele Symbol: Cs^ahl4

Allele Name	age related hearing loss 4
Allele Type	Spontaneous (Not Specified)
Allele Synonym(s)	Cs^ahl4; age related hearing loss 4
Gene Symbol and Name	Cs, citrate synthase
Gene Synonym(s)	age related hearing loss 4; 9030605P22Rik; ahl4; Cis; Cis; expressed sequence BB234005; 2610511A05Rik; 9030605P22Rik; RIKEN cDNA 9030605P22 gene; RIKEN cDNA 2610511A05 gene; BB234005; 2610511A05Rik; Ahl4
Strain of Origin	A/J
Chromosome	10
General Note	This mutation likely occurred in the A/J lineage between 1928 and 1975. J:188196
Molecular Note	The C to A nucleotide change in exon 3 of A/J (SNP rs29358506) mice causes a nonconservative amino acid change, from histidine (H) to asparagine (N) at position 55 of the protein (H55N). This histidine is highly conserved in the orthologous proteins of all mammals and in many other species indicating that it is likely to be functionally important. A/WySnJ and A/HeJ contain a C at this SNP.

Hc⁰

Allele Symbol: Hc⁰

Allele Name	deficient
Allele Type	Spontaneous
Allele Synonym(s)	deficient; Hc⁰
Gene Symbol and Name	Hc, hemolytic complement
Gene Synonym(s)	He; CPAMD4; ECLZB; C5b; He; C5; C5a; C5D; C5; Hfib2; hepatic fibrogenesis 2; Hfib2
Strain of Origin	multiple strains
Chromosome	2
General Note	This is an allele characteristic of various inbred mouse strains including the following: A/HeJ, A/J, AKR/J, DBA/2J, NZB/B1NJ, SWR/J, B10.D2/oSnJ Hc was identified as a candidate gene for Abhr2 in a microarray analysis of lung mRNA from A/J, C3H/HeJ, and (A/J x C3H/HeJ)F1 x A/J backcross animals. Hc genotype shows statistically significant correlation to allergen-induced bronchial hyperresponsive phenotype. The A/J allele contains a 2 bp deletion resulting in deficient Hc mRNA and protein production and is associated with susceptibility to allergen-induced bronchial hyperresponsiveness. (J:108211)
Molecular Note	A 2 base "TA" deletion at positions 62 and 63 of an 83 base pair exon near the 5' end of the gene is found in the following mouse strains: A/HeJ, A/J, AKR/J, DBA/2J, I/LnJ, KK/HlJ, MOLF/EiJ, NZB/B1NJ, RF/J, ST/bJ SWR/J, B10.D2/oSnJ. The consequence of this deletion is the creation of a stop codon starting four bases after the deletion. A truncated product of 216 amino acids is predicted as a result although contradictory reports exist that a larger pro-C5 protein may be synthesized. Nevertheless, macrophages from mouse strains carrying this allele do not secrete complement 5.

Wnt9b^clf1

Allele Symbol: Wnt9b^clf1

Allele Name	cleft lip 1
Allele Type	Spontaneous
Allele Synonym(s)	cleft lip 1; Wnt9b^clf1
Gene Symbol and Name	Wnt9b, wingless-type MMTV integration site family, member 9B
Gene Synonym(s)	clf1; Wnt15; cleft lip; cleft lip 1; WNT14B; WNT15; clf; clf1; wingless-type MMTV integration site 15; clf; Wnt15; Wnt14b
Strain of Origin	A/WySn
Chromosome	11
General Note	Unequal duplicate epistasis - the normal allele at clf1 is a dominant suppressor of the recessive phenotype at clf2, and the normal allele at clf2 is a semidominant suppressor of the recessive phenotype at the clf1 locus.
Molecular Note	This mutation is a novel insertion of an IAP transposon 3' from the gene. In addition, a standard genetic test of allelism between clf1 and a Wnt9b targeted mutation demonstrated noncomplementation, showing clf1 is an allele of Wnt9b.

Cdh23^ahl

Allele Symbol: Cdh23^ahl

Allele Name	age related hearing loss 1
Allele Type	Spontaneous
Allele Synonym(s)	age related hearing loss 1; Cdh23^ahl
Gene Symbol and Name	Cdh23, cadherin 23 (otocadherin)
Gene Synonym(s)	bob; bustling; bobby; nmf112; nmf252; nmf252; 4930542A03Rik; ahl; 4930542A03Rik; W; sals; mdfw; neuroscience mutagenesis facility, 181; neuroscience mutagenesis facility, 252; modifier of deaf waddler; age related hearing loss 1; v; USH1D; nmf181; RIKEN cDNA 4930542A03 gene; CDHR23; sals; waltzer; nmf112; nmf181; mdfw; neuroscience mutagenesis facility, 112; bus; ahl; bob; salsa; PITA5
Strain of Origin	multiple strains
Chromosome	10
Molecular Note	Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has shown this is caused by a G to A transition at nucleotide position 753 of Cdh23. This hypomorphic allele causes in frame skipping of exon 7, which is predicted to delete part of the 2nd and 3rd ectodomains, and cause reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD-1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129P1/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129X1/SvJ, NOR/LtJ, A/J, C57BL/6, NOD/LtJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: C3H/HeSnJ, I/LnJ, YBR/Ei, MRL/MpJ.

Mx1^s1

Allele Symbol: Mx1^s1

Allele Name	myxovirus susceptibility 1
Allele Type	Spontaneous
Allele Synonym(s)	Mx1^s1; myxovirus susceptibility 1
Gene Symbol and Name	Mx1, MX dynamin-like GTPase 1
Gene Synonym(s)	Mx; Mx-1; Mx; Mx-1; AI893580; myxovirus (influenza) resistance 1 polypeptide; expressed sequence AI893580; IFI-78K; MxA; MX; IFI78; MXB; lncMX1-215
Strain of Origin	multiple strains
Chromosome	16
General Note	The Mx genes determine resistance to the lethal effects of various myxoviruses including neurotropic avian influenza A virus injected intracerebrally, pneumotropic strains injected intranasally, and a hepatotropic strain injected intraperitoneally (J:5645, J:13136). Resistance is not dependent on presence of the thymus and is not abolished by immunosuppression or by inhibitors of macrophage function (J:5735, J:5478, J:5645). Resistance is specific for the orthomyxoviruses (J:6265). It is dependent on the presence of interferon-alpha and -beta but not -gamma (J:7365). The resistance allele at the Mx1 locus, under induction by alpha/beta interferon, produces the 75 kDa protein MX-1, which confers resistance to the influenza virus, in the nuclei of cells carrying the allele. Susceptibility alleles do not produce the protein (J:8273). The protein is located in the nucleus (J:7703) and produces its antiviral effect by preventing synthesis of viral mRNA in the nucleus (J:7992). Nuclear localization is necessary for anti-influenza virus activity (J:1417), but mutations induced in Mx1 showed that nuclear position was not sufficient for the effect; mutations in several domains can cause its loss (J:11840). The MX-1 protein is a GTPase containing a GTP binding domain (J:1417) and this binding core is also necessary (J:21243). Resistance is expressed by macrophages and other cells in vitro (J:6649, J:5940) but could not be transferred to susceptible animals by transfer of macrophages from resistant mice (J:6149). Resistance to infection with two tick-borne viruses, Thogoto virus (J:8273) and Dhori virus (J:27760), is also conferred by Mx1^r. The Mx1^r allele occurs only in strains A2G, SL/NiA, and T9, the latter being a strain derived from an influenza-resistant wild stock, and CAST/Ei, derived from Mus musculus castaneus. Most inbred strains, including C57BL/6J, C3H/HeJ, and BALB/cJ, carry an influenza susceptible Mx1^s1 allele which produces mRNA lacking exons 9, 10, and 11 of the Mx1^r allele. This large deletion apparently renders the protein incapable of providing resistance to influenza. The CBA/J, CE/J, I/LnJ, and PERA/Ei strains, also susceptible to the virus, have another form of the Mx1^s2 allele in which there is a nonsense mutation (J:9452). Interferon is induced by viral infection and in turn induces the Mx protein (J:7703). Although some interferon-induced genes respond directly to virus invasion as well as indirectly through induction by virus-induced interferon, this primary response is very weak for the MX-1 protein in response to either influenza or Newcastle disease viruses (J:1892).
Molecular Note	Many inbred mouse strains have an exon 9 to 11 deletion, resulting in a null allele and susceptibility to myxoviruses, including: A/J, ABP/Le, AKR/J, AU/SsJ, BALB/cJ, BDP/J, BUB/BnJ, C3H/HeJ, C57BL/6J, C57BL/10J, C57BL/KsJ, C57L/J, C58/J, DA/HuSn, DBA/2J, FSB/GnEi, FVB/NJ, LIS/A, LP/J, MA/MyJ, MAS/A, NZB/BINJ, P/J, PL/J, RIIIS/J, RF/J, SEA/GnJ, SEC1/ReJ, SJL/J, ST/bJ, TS1/A, TW1/A. YBR/Ei, 020/A, 129/J, SF/CamEi and SK/CamEi.

Ahr^b-2

Allele Symbol: Ahr^b-2

Allele Name	b-2 variant
Allele Type	Not Applicable
Allele Synonym(s)	b-2 variant; Ahr^b-2
Gene Symbol and Name	Ahr, aryl-hydrocarbon receptor
Gene Synonym(s)	bHLHe76; aromatic hydrocarbon responsiveness; aryl hydrocarbon hydroxylase; Ahh; dioxin receptor; In; Ah; Ahre; inflammatory reactivity; RP85
Strain of Origin	BALB/cBy
Chromosome	12
General Note	C57BL/6 carries the responsive Ahr^b allele; DBA/2 carries nonresponsive Ahr^d. Heterozygotes (Ahr^b/Ahr^d) are responsive (J:5282). Later work identified a second (J:8895) and later a third (J:22144) allele conferring response. Thus the allele in C57, C58, and MA/My strains is now Ahr^b-1; Ahr^b-2 is carried by BALB/cBy, A, and C3H; and Ahr^b-3 by Mus spretus, M. caroli, and MOLF/Ei. The nonresponsive strains AKR, DBA/2, and 129 carry Ahrd (J:22144). Nucleotide and amino acid sequence differences between Ahr^b-1 and Ahr^d have been determined (J:17460). Strain of origin - this allele was found in BALB/cByJ, A/J, C3H/HeJ, CBA strains
Molecular Note	This allele encodes a high affinity, heat labile, 104 kDa receptor containing 848 amino acids. Sequencing studies of cDNA from C57BL/6J congenic mice homozygous for this allele identified nucleotide substitutions in the ORF that would cause 5 amino acid differences between the C57BL/6J and BALB/cBy peptides, and 2 amino acid differences between the BALB/cBy and DBA/2J peptides. A T to C transition in exon 11 replaces the opal termination codon in the C57BL/6J allele with an arginine codon in the BALB/cBy allele. This change would extend translation of the BALB/cBy mRNA by 43 amino acids, accounting for the larger size of the peptide produced by this allele (104 kDa, vs 95 kDa for the C57BL/6J allele).

Bhr5^A/J

Allele Symbol: Bhr5^A/J

Allele Name	A/J
Allele Type	QTL
Allele Synonym(s)	Bhr5^A/J; A/J
Gene Symbol and Name	Bhr5, bronchial hyperresponsiveness 5
Gene Synonym(s)
Strain of Origin	A/J
Chromosome	6
General Note	Heterozygosity for A/J-derived alleles at both Bhr1 and Bhr5 is sufficient to confer the airway hyperresponsive phenotype.
Molecular Note	This allele confers susceptibility to airway hyperresponsiveness compared to C3H/HeJ.

Micrlⁿ

Allele Symbol: Micrlⁿ

Allele Name	non-responder
Allele Type	QTL
Allele Synonym(s)	Micrlⁿ; non-responder
Gene Symbol and Name	Micrl, microwave induced increase in complement receptor B cells
Gene Synonym(s)
Strain of Origin	multiple strains
Chromosome	5
General Note	The following inbred strains are homozygous for the recessive QTL, Micrl, and do not respond to microwave exposure by increasing splenic C3 receptor-bearing B cells: A/J, BALB/cJ, C3HeB/FeN, C57BL/6J, C57BL/10J (inferred from the response of two congenic lines "B10.BR", "B10.D2", "B10.D2"), C58/J, AK.B6-H2^b, and B6.AK-H2^k. These recombinant inbred strains are also non-responding: BXH2/Ty, BXH6/Ty, BXH7/Ty, BXH12/Ty, and BXH14/Ty.

Cox7a2l^l

Allele Symbol: Cox7a2l^l

Allele Name	long
Allele Type	Not Applicable (Not Specified)
Allele Synonym(s)	Cox7a2l^l; long
Gene Symbol and Name	Cox7a2l, cytochrome c oxidase subunit 7A2 like
Gene Synonym(s)	COX7RP; SIG-81; SIG81; silica-induced gene 81; Silg81; COX7AR; EB1
Strain of Origin	multiple strains
Chromosome	17
General Note	Querying the sequences of the Sanger Mouse Genomes Project reveals that the short allele with its 6 bp deletion exists in C57BL/6J, C57BL/10J, C57BL/6NJ, C58/J, BALB/cJ, C3H/HeH, 129S5/SvEvBrd, NZW/LacZ, and SEA/GnJ, but the long allele lacking the deletion exists in 129S1/SvImJ, A/J, AKR/J, BTBR T⁺ Itpr3^tf/J, BUB/BnJ, C3H/HeJ, C57BR/cdJ, C57L/J, CAST/EiJ, CBA/J, DBA/1J, DBA/2J, FVB/NJ, I/LnJ, KK/HiJ, LEWES/EiJ, LP/J, MOLF/EiJ, NOD/ShiLtJ, NZB/BlNJ, NZO/HlLtJ, PWK/PhJ, RF/J, SPRET/EiJ, ST/bJ, WSB/EiJ, ZALENDE/EiJ.
Molecular Note	This allele encodes the long isoform with 113 amino acids. It is found in 129S2/SvPasCrl, CBA/CaOlaHsd, Hsd:ICR, and NZB/OlaHsd.

mt-Tr^m1

Allele Symbol: mt-Tr^m1

Allele Name	mutation 1
Allele Type	Spontaneous
Allele Synonym(s)	mutation 1; mt-Tr^m1
Gene Symbol and Name	mt-Tr, mitochondrially encoded tRNA arginine
Gene Synonym(s)	tRNA-Arg; tRNA; TrnR tRNA; MTTR
Strain of Origin	various
Chromosome	MT
General Note	This polymorphism is present in A/J, NZB/B1NJ, ALS/Lt and NOD/ShiLtJ. A variant with 9 adenines is found in NOD/ShiLtDvs, ALR/Lt and SKH2/J.
Molecular Note	The adenine repeat in the D stem is polymorphic with 10 adenines in this allele.

Bhr1^A/J

Allele Symbol: Bhr1^A/J

Allele Name	A/J
Allele Type	QTL
Allele Synonym(s)	Bhr1^A/J; A/J
Gene Symbol and Name	Bhr1, bronchial hyperresponsiveness 1
Gene Synonym(s)
Strain of Origin	A/J
Chromosome	2
General Note	Heterozygosity for A/J-derived alleles at both Bhr1 and Bhr5 is sufficient to confer the airway hyperresponsive phenotype.
Molecular Note	This allele confers increased airway hyperresponsiveness compared to C57BL/6J.

Naip5^Lgn1-s

Allele Symbol: Naip5^Lgn1-s

Allele Name	Legionella, susceptiblility 1
Allele Type	Spontaneous
Allele Synonym(s)	Naip5^Lgn1-s; Legionella, susceptiblility 1
Gene Symbol and Name	Naip5, NLR family, apoptosis inhibitory protein 5
Gene Synonym(s)	Birc1; Birc1a; Birc1b; Naip-rs3; Birc1e; Naip; Legionella, susceptiblility 1; Naip-rs3; Naip2; Birc1e; Lgn1; baculoviral IAP repeat-containing 1e; Lgn1; RGD1559914; neuronal apoptosis inhibitory protein 5; neuronal apoptosis inhibitory protein, related sequence 3; BIRC1; psiNAIP; NLRB1
Strain of Origin	A/J
Chromosome	13
Molecular Note	A/J mice are susceptible to infection by Legionella pneumophilia. This susceptibility is heritable and is caused by a polymorphism in the Naip5 gene. Expression of BAC clones containing the Naip5 gene from resistant strains (C57BL/6J and 129X1/SvJ) in A/J mice rendered transgenic mice resistant to infection (J:81887, J:129300). In addition, Western blot experiments demonstrated that the NAIP5 protein is not expressed in A/J macrophages, while robust expression is seen in macrophages from resistant strains such as C57BL/6J. Sequence polymorphisms in this gene between susceptible and resistant strains were identified that may account for the difference in phenotype. In addition, morpholino antisense inhibition of NAIP5 activity in mouse macrophages from resistant mice resulted in an increase in permissiveness of Legionella replication (J:129300).

Dysf^prmd

Allele Symbol: Dysf^prmd

Allele Name	progressive muscular dystrophy
Allele Type	Spontaneous
Allele Synonym(s)	progressive muscular dystrophy; Dysf^prmd
Gene Symbol and Name	Dysf, dysferlin
Gene Synonym(s)	2310004N10Rik; 2310004N10Rik; AI604795; RIKEN cDNA 2310004N10 gene; MMD1; DNA segment, Chr 6, Pasteur Institute 3; LGMD2B; FER1L1; expressed sequence AI604795; D6Pas3; LGMDR2
Strain of Origin	A/J
Chromosome	6
Molecular Note	A retrotransposon insertion occurred within intron 4, causing aberrant splicing of the gene. Protein was abolished as shown by Northern blot and immunoblot analysis. The insertion was 6000bp in size. This allele was found only in A/J mice, not in A/WySnJ, A/HeJ, C57BL/6J, SJL/J, SWR/J or 129/SvJ mice.
Mutations Made By	Douglas Albrecht, Jain Foundation Inc

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Dysf^prmd related

Mouse/Human Gene Homologs
- muscular dystrophy, limb-girdle
  - type 2B

Genotype: Hc⁰ related

Immunology, Inflammation and Autoimmunity Research
- Immunodeficiency
  - specific complement deficiency
Research Tools
- Immunology, Inflammation and Autoimmunity Research
  - specific complement deficiency, C5 complement

Genotype: Il3ra^m1 related

Immunology, Inflammation and Autoimmunity Research
- CD Antigens, Antigen Receptors, and Histocompatibility Markers
  - genes regulating susceptibility to infectious disease and endotoxin

Genotype: Naip5^Lgn1-s related

Immunology, Inflammation and Autoimmunity Research
- Immunodeficiency
  - Macrophage defects

Cancer Research
- Increased Tumor Incidence
  - Adenomas
  - Mammary Gland Tumors
  - Mammary Gland Tumors: late onset
  - Adenomas: lung
Research Tools
- Infectious Disease
  - Anthrax
- General Purpose
- Immunology, Inflammation and Autoimmunity Research
  - hybridoma production
Neurobiology Research
- Muscular Dystrophy
  - Limb-Girdle type
- Hearing Defects
  - Age related hearing loss
Sensorineural Research
- Hearing Defects
  - Age related hearing loss
Internal/Organ Research
- Lung Defects
  - COPD
  - emphysema
Cardiovascular Research
- Diet-Induced Atherosclerosis
  - Relatively Resistant
Developmental Biology Research
- Craniofacial and Palate Defects
  - congenital cleft palate
- Internal/Organ Defects
  - gonads

Genotype: Cdh23^ahl related

Neurobiology Research
- Hearing Defects
  - Age related hearing loss
Sensorineural Research
- Hearing Defects
  - Age related hearing loss

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Dysf^prmd/Dysf^prmd
A/J

behavior/neurological phenotype

abnormal physical strength

limb grasping
- hind-limb clasping develops after 8 months of age
- inability to spread legs when suspended by their tails after 8 months of age

cellular phenotype

skeletal muscle fiber necrosis
- increased numbers of necrotic and regenerating fibers with time

muscle phenotype

abnormal skeletal muscle fiber morphology
- abnormalities primarily in proximal muscles at early ages
- hypertrophic fibers, fiber splitting and fat replacement also seen

abnormal skeletal muscle morphology
- eventually, active myopathy was seen in all skeletal muscles
- perivascular infiltrates and inflammation seen by 8 months of age

centrally nucleated skeletal muscle fibers

skeletal muscle endomysial fibrosis
- endomysial fibrosis at later stages

skeletal muscle fiber degeneration
- fibers with scattered degenerating and regenerating fibers by 4-5 months of age

skeletal muscle fiber necrosis
- increased numbers of necrotic and regenerating fibers with time

Genotype: Il3ra^m1/Il3ra^m1
A/J

hematopoietic system phenotype

abnormal common myeloid progenitor cell morphology
- CFU-GM assays using bone marrow derived cells yield very few colonies in repsonse to interleukin 3, but normal colony growth occurs in response to GM-CSF

abnormal leukopoiesis
- Il3 alone does not support granulocyte/macrophage colony formation in bone marrow cells from A/J mice but does in bone marrow from C57BL/6 controls; costimulation with both Il3 and SCF increases the number of colonies formed compared to SCF alone

immune system phenotype

abnormal leukopoiesis
- Il3 alone does not support granulocyte/macrophage colony formation in bone marrow cells from A/J mice but does in bone marrow from C57BL/6 controls; costimulation with both Il3 and SCF increases the number of colonies formed compared to SCF alone

Genotype: Naip5^Lgn1-s/Naip5^Lgn1-s
A/J

immune system phenotype

increased susceptibility to bacterial infection
- peritoneal macrophages derived from A/J mice are susceptible to Legionella pneumophilia infection; infected macrophages show a 10-fold increase in bacterial burden after 1 day of infection compared to resistant controls (C57BL/6J)

Genotype: Cs^ahl4/Cs^ahl4
A/J

hearing/vestibular/ear phenotype

impaired hearing

increased or absent threshold for auditory brainstem response
- in A/J mice ABR thresholds at 16 and 32 kHz are elevated by 25 days of age and by 3 months of age the ABR thresholds are more than 50 dB above normal

increased susceptibility to age-related hearing loss
- in A/J mice onset of hearing loss is found as early as 25 days of age and is much more severe at 6 months of age than that found in C57BL/6J

Genotype: Cdh23^ahl/Cdh23^ahl mt-Tr^m1
either: A/J X (A/J x CAST/Ei)F1 or A/J X (CAST/Ei x A/J)F1

hearing/vestibular/ear phenotype

increased or absent threshold for auditory brainstem response
- average ABR threshold is significantly increased by 3 months of age

increased susceptibility to age-related hearing loss
- the presence of this mitochondrial sequence polymorphism in mice homozygous for the ahl allele results in age related hearing loss by 3 months of age, which is absent when the CAST/Ei mitochondrial sequence is instead present

Genotype: Nrg3^ska/Nrg3^ska
A/J

endocrine/exocrine gland phenotype

abnormal mammary gland development
- Background Sensitivity - 95% of female A/J mice display an altered pattern of mammary gland development compared with C57BL/6 which showed no abnormalities in this study

abnormal mammary gland pattern
- 95% of females have abnormal mammary gland development

abnormal nipple development

absent mammary gland
- 55% of females observed have this phenotype
- Background Sensitivity - when observed involves only glands of pair #3

ectopic mammary gland
- 29% of females observed had this phenotype
- misplacement is usually observed with gland #3

ectopic nipples

increased mammary gland number
- 31% of the females observed have this phenotype or supernumerary nipples
- occasionally found between glands #2 and #4 or below #3 gland along the milkline

increased nipple number
- connected to distinct underlying ductal systems; not connected to the major ductal system of the normal gland
- easily observed at 21 days of age
- most commonly observed laterally to a #4 gland and displaced away from the mid-line
- this phenotype or supernumerary mammary glands comprise 31% of mice observed

integument phenotype

abnormal mammary gland development
- Background Sensitivity - 95% of female A/J mice display an altered pattern of mammary gland development compared with C57BL/6 which showed no abnormalities in this study

abnormal mammary gland pattern
- 95% of females have abnormal mammary gland development

abnormal nipple development

absent mammary gland
- 55% of females observed have this phenotype
- Background Sensitivity - when observed involves only glands of pair #3

ectopic mammary gland
- 29% of females observed had this phenotype
- misplacement is usually observed with gland #3

ectopic nipples

increased mammary gland number
- 31% of the females observed have this phenotype or supernumerary nipples
- occasionally found between glands #2 and #4 or below #3 gland along the milkline

increased nipple number
- connected to distinct underlying ductal systems; not connected to the major ductal system of the normal gland
- easily observed at 21 days of age
- most commonly observed laterally to a #4 gland and displaced away from the mid-line
- this phenotype or supernumerary mammary glands comprise 31% of mice observed

Phenotype Information

References

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Additional - Ahr^b-2 related

Additional - Bhr1^A/J related

Additional - Bhr5^A/J related

Additional - Cdh23^ahl related

Additional - Cox7a2l^l related

Additional - Cs^ahl4 related

Additional - Dysf^prmd related

Additional - Hc⁰ related

Additional - Il3ra^m1 related

Additional - Micrlⁿ related

Additional - mt-Tr^m1 related

Additional - Mx1^s1 related

Additional - Naip5^Lgn1-s related

Additional - Nrg3^ska related

Additional - Rmcf^s related

Additional - Wnt9b^clf1 related

Technical Support

Contact Technical Support

Genotyping Protocols
- Sanger sequencing:H2^a
- Genotyping resources and troubleshooting
Inbred mouse strains are maintained through sibling (sister x brother) matings; no genotyping required.
Dietary Information
- LabDiet® 5K52/5K67
Breeding Considerations

This strain is a good breeder.
- Additional Breeding and Husbandry Support
Mating System
- Sibling x Sibling
Appearance
- albino
  Related Genotype: a/a Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c
Citation
When using the A/J mouse strain in a publication, please include JAX stock #000646 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MP13 (Maximum)

RB04 (Maximum)

MP16 (Standard)

Pricing & Availability

Readily Available

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Volume Pricing Details

QUANTITY	VOLUME PRICING

Volume Pricing Program
Quantities: Volume pricing is automatically applied when a minimum quantity per strain for a shipment is reached
Sexes: Sexes of the same strain may be combined to reach minimum quantity levels to receive the volume pricing
Shipment: All shipping destinations qualify

This strain is available from some international Charles River (CR) breeding facilities in Japan and/or Europe. For more information, see the Worldwide Distributor List for JAX® Mice.

Cryorecovery - Pricing

Service	Genotype	Price
	Inbred, 1 pair minimum will be supplied

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

Terms Of Use

Terms of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "RECIPIENT" means each recipient of MICE, PRODUCTS, or SERVICES provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED "AS IS". JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

Credit for PRODUCTS or SERVICES

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of, PRODUCTS or SERVICES, JACKSON will, at its option, provide credit or replacement for the PRODUCT received or the SERVICES provided; JACKSON makes no other representations and this shall be the exclusive remedy of the purchaser. Please note specific policy for live mice.

Animal Care and Use for SERVICES

Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE, PRODUCTS or SERVICES are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or SERVICES. In addition, special terms and conditions of sale of certain MICE, PRODUCTS, or SERVICES may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and SERVICES by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or SERVICES shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or SERVICES by JACKSON.

Also Known As: A, AJ

Genetic overview

Research Applications

Base Price

Volume Pricing Available!

Important Note

Detailed Description

Selected References

Il3ram1

Allele Symbol: Il3ram1

Nrg3ska

Allele Symbol: Nrg3ska

Rmcfs

Allele Symbol: Rmcfs

Csahl4

Allele Symbol: Csahl4

Hc0

Allele Symbol: Hc0

Wnt9bclf1

Allele Symbol: Wnt9bclf1

Cdh23ahl

Allele Symbol: Cdh23ahl

Mx1s1

Allele Symbol: Mx1s1

Ahrb-2

Allele Symbol: Ahrb-2

Bhr5A/J

Allele Symbol: Bhr5A/J

Micrln

Allele Symbol: Micrln

Cox7a2ll

Allele Symbol: Cox7a2ll

mt-Trm1

Allele Symbol: mt-Trm1

Bhr1A/J

Allele Symbol: Bhr1A/J

Naip5Lgn1-s

Allele Symbol: Naip5Lgn1-s

Dysfprmd

Allele Symbol: Dysfprmd

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Dysfprmd related

Genotype: Hc0 related

Genotype: Il3ram1 related

Genotype: Naip5Lgn1-s related

Genotype: Cdh23ahl related

Mammalian Phenotype Terms by Genotype

Genotype: Dysfprmd/DysfprmdA/J

behavior/neurological phenotype

cellular phenotype

muscle phenotype

Genotype: Il3ram1/Il3ram1A/J

hematopoietic system phenotype

immune system phenotype

Genotype: Naip5Lgn1-s/Naip5Lgn1-sA/J

immune system phenotype

Genotype: Csahl4/Csahl4A/J

hearing/vestibular/ear phenotype

Genotype: Cdh23ahl/Cdh23ahl mt-Trm1either: A/J X (A/J x CAST/Ei)F1 or A/J X (CAST/Ei x A/J)F1

hearing/vestibular/ear phenotype

Genotype: Nrg3ska/Nrg3skaA/J

endocrine/exocrine gland phenotype

integument phenotype

Phenotype Information

References

Additional References

Additional - Ahrb-2 related

Additional - Bhr1A/J related

Additional - Bhr5A/J related

Additional - Cdh23ahl related

Additional - Cox7a2ll related

Additional - Csahl4 related

Additional - Dysfprmd related

Additional - Hc0 related

Additional - Il3ram1 related

Additional - Micrln related

Additional - mt-Trm1 related

Il3ra^m1

Allele Symbol: Il3ra^m1

Nrg3^ska

Allele Symbol: Nrg3^ska

Rmcf^s

Allele Symbol: Rmcf^s

Cs^ahl4

Allele Symbol: Cs^ahl4

Hc⁰

Allele Symbol: Hc⁰

Wnt9b^clf1

Allele Symbol: Wnt9b^clf1

Cdh23^ahl

Allele Symbol: Cdh23^ahl

Mx1^s1

Allele Symbol: Mx1^s1

Ahr^b-2

Allele Symbol: Ahr^b-2

Bhr5^A/J

Allele Symbol: Bhr5^A/J

Micrlⁿ

Allele Symbol: Micrlⁿ

Cox7a2l^l

Allele Symbol: Cox7a2l^l

mt-Tr^m1

Allele Symbol: mt-Tr^m1

Bhr1^A/J

Allele Symbol: Bhr1^A/J

Naip5^Lgn1-s

Allele Symbol: Naip5^Lgn1-s

Dysf^prmd

Allele Symbol: Dysf^prmd

Genotype: Dysf^prmd related

Genotype: Hc⁰ related

Genotype: Il3ra^m1 related

Genotype: Naip5^Lgn1-s related

Genotype: Cdh23^ahl related

Genotype: Dysf^prmd/Dysf^prmd
A/J

Genotype: Il3ra^m1/Il3ra^m1
A/J

Genotype: Naip5^Lgn1-s/Naip5^Lgn1-s
A/J

Genotype: Cs^ahl4/Cs^ahl4
A/J

Genotype: Cdh23^ahl/Cdh23^ahl mt-Tr^m1
either: A/J X (A/J x CAST/Ei)F1 or A/J X (CAST/Ei x A/J)F1

Genotype: Nrg3^ska/Nrg3^ska
A/J

Additional - Ahr^b-2 related

Additional - Bhr1^A/J related

Additional - Bhr5^A/J related

Additional - Cdh23^ahl related

Additional - Cox7a2l^l related

Additional - Cs^ahl4 related

Additional - Dysf^prmd related

Additional - Hc⁰ related

Additional - Il3ra^m1 related

Additional - Micrlⁿ related

Additional - mt-Tr^m1 related

Additional - Mx1^s1 related

Additional - Naip5^Lgn1-s related

Additional - Nrg3^ska related

Additional - Rmcf^s related

Additional - Wnt9b^clf1 related