Overview

This strain was inbred as a multiple recessive inbred strain carrying several mutations and used as a linkage testing stock.

Genetic overview

Genetic Background	Generation

View Genetics

Research Applications

Dermatology Research
Cell Biology Research
Developmental Biology Research
Neurobiology Research
Mouse/Human Gene Homologs
Cancer Research
Endocrine Deficiency Research
Immunology, Inflammation and Autoimmunity Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

This strain is homozygous for Adamts20^bt, Bmp5^se and Tgfa^wa1.

Detailed Description

Mice homozygous for the Tgfa^wa1 spontaneous mutation are recognizable at 2 or 3 days of age by their curly whiskers. The first coat is strongly waved and straight in later coats. Most of the whiskers also become straight, but the guard hairs are curved and shorter than normal. Some homozygotes have eyelids open at birth.

Mice homozygous for the recessive Adamts20^bt mutation have a dorsal and a ventral unpigmented patch posterior to the midline of the trunk with the dorsal patch usually being larger than the ventral patch. These patches run in a more transverse orientation across the mouse than lengthwise and often extend around the sides of the mouse to form a white belt. The size of the patches can vary from approximately 1 to 20 percent of the surface. Unlike other spotting mutations, no variability in phenotype was identified when belted was transferred onto the C57BL/6J or JU/CtLm backgrounds (Lamoreaux 1999). Murray and Snell reported finding a small belly spot on a few heterozygotes so the Adamts20^bt mutation may not be entirely recessive.

Development

In 1954 Drs. William Murray and George Snell reported the belted mutation (Adamts20^bt) that arose spontaneously in strain DBA at The University of Maine. They combined the mutations pink-eyed dilution (p) and waved 1 (Tgfa^wa1) with belted into a linkage testing stock called BP. Waved 1 had been found in a mixed stock by Crew in 1933. Later in the 1960s brown (Tyrp1^b) and short ear (Bmps^se) from the SEC/1 strain were added by Dr. Allan Griffin and the stock was called ABP. ABP was probably sibling mated although no records are available. It was used specifically for testing in irradiation experiments. In 1969 it was taken by P. Lane and inbred as a multiple recessive inbred strain ABP/Le. It was cryopreserved at F64 in 1978 by mating homozygotes.

Control Suggestions

None Available

Additional Information

Considerations for Choosing Controls

Genetics

Tyrp1^b

Allele Symbol: Tyrp1^b

Allele Name	brown
Allele Type	Spontaneous
Allele Synonym(s)	b
Gene Symbol and Name	Tyrp1, tyrosinase-related protein 1
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	4
Molecular Note	A G-to-A transition point mutation at position 329 was shown by revertant analysis to be responsible for the mutant phenotype seen in the brown mutant. This mutation changes cysteine to tyrosine at position 110 (p.C110Y) in the encoded protein. Three other point mutations in the brown sequence were identified, but do not contribute to the mutant phenotype.

Oca2^p

Allele Symbol: Oca2^p

Allele Name	pink-eyed dilution
Allele Type	Spontaneous
Allele Synonym(s)	p; R262X
Gene Symbol and Name	Oca2, oculocutaneous albinism II
Gene Synonym(s)
Strain of Origin	Asiatic fancy mice
Chromosome	7
General Note	Oca2^p is a very old mutation carried in many varieties of fancy mice (J:12958). It has been suggested that the original mutation occurred in Japanese wild mice, Mus musculus molossinus (J:19782).
Molecular Note	A nonsense substitution was identified to account for the phenotype. It is a C-to-T substitution in exon 7 in the codon for the 262nd amino acid of the OCA2 protein (p.R262*).

Bmp5^se

Allele Symbol: Bmp5^se

Allele Name	short ear
Allele Type	Spontaneous
Allele Synonym(s)	se^GnJ
Gene Symbol and Name	Bmp5, bone morphogenetic protein 5
Gene Synonym(s)
Strain of Origin	mice from Abbie Lathrop mouse farm
Chromosome	9
General Note	Phenotypic Similarity to Human Syndrome: Ear, Patella, Short Stature Syndrome (Meier-Gorlin Syndrome) in homozygous mice (J:24474)
Molecular Note	The C to T substitution creates a stop codon at arginine codon 208 (p.R208*). The resulting truncated protein does not include the carboxy terminal signaling portion of the molecule.

Tgfa^wa1

Allele Symbol: Tgfa^wa1

Allele Name	waved 1
Allele Type	Spontaneous
Allele Synonym(s)	wa-1; waved
Gene Symbol and Name	Tgfa, transforming growth factor alpha
Gene Synonym(s)
Strain of Origin	Not Specified
Chromosome	6
Molecular Note	This allele was identified by a noncomplementation test with Tgfa^tm1Unc. Although the specific molecular lesion has not been identified, Northern blot analysis revealed that expression of TGFalpha transcript was reduced in homozygous mice.

Adamts20^bt

Allele Symbol: Adamts20^bt

Allele Name	belted
Allele Type	Spontaneous
Allele Synonym(s)	bt
Gene Symbol and Name	Adamts20, a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20
Gene Synonym(s)
Strain of Origin	DBA/2J
Chromosome	15
Molecular Note	The mutation was identified as C to T transition at position 1598 that generates a substitution of leucine for proline in the ADAM cysteine-rich domain.

Mx1^s1

Allele Symbol: Mx1^s1

Allele Name	myxovirus susceptibility 1
Allele Type	Spontaneous (Null/Knockout)
Allele Synonym(s)
Gene Symbol and Name	Mx1, MX dynamin-like GTPase 1
Gene Synonym(s)
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.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

Meier-Gorlin syndrome

Research Areas By Phenotype

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

Genotype: Adamts20^bt related

Dermatology Research
- Color and White Spotting Defects
Cell Biology Research
- Protein Processing

Genotype: Bmp5^se related

Developmental Biology Research
- Growth Defects
- Skeletal Defects
- Craniofacial and Palate Defects

Genotype: Oca2^p related

Dermatology Research
- Color and White Spotting Defects
Mouse/Human Gene Homologs
- albinism, oculocutaneous type II, OCA2
Neurobiology Research
- Angelman syndrome

Genotype: Tgfa^wa1 related

Neurobiology Research
- Behavioral and Learning Defects
Cancer Research
- Growth Factors/Receptors/Cytokines
Dermatology Research
- Skin and Hair Texture Defects
Endocrine Deficiency Research
- Skin Defects
Immunology, Inflammation and Autoimmunity Research
- Growth Factors/Receptors/Cytokines

Genotype: Tyrp1^b related

Dermatology Research
- Color and White Spotting Defects
Mouse/Human Gene Homologs
- oculocutaneous albinism type III

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Tgfa^wa1/Tgfa^wa1
Not Specified

immune system phenotype

conjunctivitis
- one day after birth an inflammatory exudate covers the eye opening and falls away by post partum day 4
- the exudate is replaced by white excrescence which usually disappears by post partum day 18

keratoconjunctivitis
- infiltrate of polymorphonuclear leucocytes are seen

integument phenotype

decreased guard hair length

abnormal coat appearance
- affected mice appear abnormal at 7 or 8 days of age
- newly erupted hair tips on the dorsum incline towards the mid-line rather than straight backwards

abnormal coat/ hair morphology
- all hair types form loose C-and S-shaped curves, commonly with curved tips

abnormal hair follicle development
- follicle arrangement in 5 day old mice is disorganized
- curvature in guard hair follicles is extreme at 3 to 4 days of age compared with normal and they grow backwards into the adipose layer
- follicles grow curved resulting in curvature to the hair

increased curvature of hairs
- the result of growth from curved follicles

wavy vibrissae
- recognized between birth and 3 days as shorter and irregularly curved compared with normal
- most of vibrissae become straighter in older mice

abnormal hair shaft morphology
- there is local rippling most common basally with or without curvature

abnormal hair texture

abnormal zigzag hair morphology
- in most affected hairs the second and third segments are very short,broad and curved
- local septulate areas occur in all three segments
- basal part of these hairs are often thick and the club itself short and squat

waved hair
- obvious at 10 days of age
- extreme waviness of the first coat is lost in later hair generations but the coat never looks normal

abnormal vibrissa morphology

vision/eye phenotype

eyelids open at birth
- one or both eyelids may be open although some mice have normal eyes

conjunctivitis
- one day after birth an inflammatory exudate covers the eye opening and falls away by post partum day 4
- the exudate is replaced by white excrescence which usually disappears by post partum day 18

microphthalmia

corneal scarring
- due to environmental injury caused by eyes being open at birth

corneal opacity
- incipient opacity diminishes with age

abnormal corneal stroma development
- histological preparations of 4 day old mice show enlarged nuclei in this area and there is an infiltration of polymorphonuclear leucocytes

keratoconjunctivitis
- infiltrate of polymorphonuclear leucocytes are seen

failure of eyelid fusion
- confirmed by examination of coronal sections of E17 and E18 embryos

increased corneal stroma thickness
- seen in histological examination of E17 and E18 mice

Genotype: Bmp5^se/Bmp5^se
Not Specified

hearing/vestibular/ear phenotype

small ears
- pinna is about one half as long as wild-type and 1-2 mm less broad than in wild-type

abnormal ear shape
- pinna is less regularly curved and exhibits a flattening near the tip of the ear and in the outer margin

thick ears
- pinna is usually thick and fleshy

short ears

homeostasis/metabolism phenotype

abnormal bone healing
- decreased repair of fractures

limbs/digits/tail phenotype

abnormal fibula morphology
- aplasia or hypoplasia of the peroneal process of the fibula

abnormal limb bone morphology
- aplasia or hypoplasia of ulnar sesamoid bone in wrist

abnormal sesamoid bone of gastrocnemius morphology
- reduction or elimination of medial, but not lateral, sesamoid bone near knee

skeleton phenotype

abnormal cranium morphology
- short skull

abnormal long bone morphology
- altered curves of long bones

abnormal rib morphology
- rib defects

increased cranium width

decreased rib number

abnormal limb bone morphology
- aplasia or hypoplasia of ulnar sesamoid bone in wrist

decreased diameter of long bones
- smaller widths of long bones

abnormal bone healing
- decreased repair of fractures

absent xiphoid process
- xiphisternum is either absent or split

abnormal fibula morphology
- aplasia or hypoplasia of the peroneal process of the fibula

abnormal vertebrae morphology
- vertebrae abnormalities

split xiphoid process
- xiphisternum is either absent or split

abnormal sacrum morphology
- sacrum defect

abnormal sesamoid bone of gastrocnemius morphology
- reduction or elimination of medial, but not lateral, sesamoid bone near knee

craniofacial phenotype

increased cranium width

abnormal ear shape
- pinna is less regularly curved and exhibits a flattening near the tip of the ear and in the outer margin

short ears

small ears
- pinna is about one half as long as wild-type and 1-2 mm less broad than in wild-type

abnormal cranium morphology
- short skull

thick ears
- pinna is usually thick and fleshy

growth/size/body region phenotype

short ears

thick ears
- pinna is usually thick and fleshy

abnormal ear shape
- pinna is less regularly curved and exhibits a flattening near the tip of the ear and in the outer margin

decreased body size

small ears
- pinna is about one half as long as wild-type and 1-2 mm less broad than in wild-type

Genotype: Oca2^p/Oca2^p
Not Specified

pigmentation phenotype

decreased eye pigmentation

vision/eye phenotype

decreased eye pigmentation

Genotype: Adamts20^bt/Adamts20^bt
involves: DBA/2J

integument phenotype

belted
- mice have a white band reaching across the back in the midtrunk region which sometimes joins a white belly spot of varying sizes

abnormal hair follicle melanin granule distribution
- the white spotting appears to be due to a defect in the hair follicles which prevents pigment cells from entering the hair follicles or from developing there

pigmentation phenotype

belted
- mice have a white band reaching across the back in the midtrunk region which sometimes joins a white belly spot of varying sizes

abnormal hair follicle melanin granule distribution
- the white spotting appears to be due to a defect in the hair follicles which prevents pigment cells from entering the hair follicles or from developing there

References

Additional References

Dubail J; Aramaki-Hattori N; Bader HL; Nelson CM; Katebi N; Matuska B; Olsen BR; Apte SS. 2014. A new Adamts9 conditional mouse allele identifies its non-redundant role in interdigital web regression. Genesis 52(7):702-12PubMed: 24753090 MGI: J:213412
Legare ME; Frankel WN. 2000. Multiple seizure susceptibility genes on chromosome 7 in SWXL-4 congenic mouse strains Genomics 70(1):62-5PubMed: 11087662 MGI: J:66159
Luetteke NC; Qiu TH; Peiffer RL; Oliver P; Smithies O; Lee DC. 1993. TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice. Cell 73(2):263-78PubMed: 8477445 MGI: J:4605
Mann GB; Fowler KJ; Gabriel A; Nice EC; Williams RL; Dunn AR. 1993. Mice with a null mutation of the TGF alpha gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation. Cell 73(2):249-61PubMed: 8477444 MGI: J:4606
McCulloch DR; Nelson CM; Dixon LJ; Silver DL; Wylie JD; Lindner V; Sasaki T; Cooley MA; Argraves WS; Apte SS. 2009. ADAMTS metalloproteases generate active versican fragments that regulate interdigital web regression. Dev Cell 17(5):687-98PubMed: 19922873 MGI: J:155754
Rao C; Foernzler D; Loftus SK; Liu S; McPherson JD; Jungers KA; Apte SS; Pavan WJ; Beier DR. 2003. A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation. Development 130(19):4665-72PubMed: 12925592 MGI: J:84755
Silver DL; Hou L; Somerville R; Young ME; Apte SS; Pavan WJ. 2008. The secreted metalloprotease AMAMTS20 is required for melanoblast survival PLoS Genet 4(2):e1000003PubMed: 18454205 MGI: J:133403

Additional - Adamts20^bt related

Additional - Bmp5^se related

Additional - Mx1^s1 related

Additional - Oca2^p related

Additional - Tgfa^wa1 related

Additional - Tyrp1^b related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- pink-eyed beige with belt, wavy fur, and short ears
  Related Genotype: a/a Tyrp1^b/Tyrp1^b Adamts20^bt/Adamts20^bt Oca2^p/Oca2^p Bmp5^se/Bmp5^se Tgfa^wa1/Tgfa^wa1
Citation
When using the ABP/LeJ mouse strain in a publication, please include JAX stock #000004 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
> >	Homozygous for a, Homozygous for Tyrp1<b> , Homozygous for Adamts20<bt>, Homozygous for Oca2<p>, Homozygous for Bmp5<se>, Homozygous for Tgfa<wa1>, 1 pair minimum

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Tyrp1b

Allele Symbol: Tyrp1b

Oca2p

Allele Symbol: Oca2p

Bmp5se

Allele Symbol: Bmp5se

Tgfawa1

Allele Symbol: Tgfawa1

Adamts20bt

Allele Symbol: Adamts20bt

Mx1s1

Allele Symbol: Mx1s1

Disease Terms

Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

Research Areas By Phenotype

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

Genotype: Adamts20bt related

Genotype: Bmp5se related

Genotype: Oca2p related

Genotype: Tgfawa1 related

Genotype: Tyrp1b related

Mammalian Phenotype Terms by Genotype

Genotype: Tgfawa1/Tgfawa1Not Specified

immune system phenotype

integument phenotype

vision/eye phenotype

Genotype: Bmp5se/Bmp5seNot Specified

hearing/vestibular/ear phenotype

homeostasis/metabolism phenotype

limbs/digits/tail phenotype

skeleton phenotype

craniofacial phenotype

growth/size/body region phenotype

Genotype: Oca2p/Oca2pNot Specified

pigmentation phenotype

vision/eye phenotype

Genotype: Adamts20bt/Adamts20btinvolves: DBA/2J

integument phenotype

pigmentation phenotype

References

Additional References

Additional - Adamts20bt related

Additional - Bmp5se related

Additional - Mx1s1 related

Additional - Oca2p related

Additional - Tgfawa1 related

Additional - Tyrp1b related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Tyrp1^b

Allele Symbol: Tyrp1^b

Oca2^p

Allele Symbol: Oca2^p

Bmp5^se

Allele Symbol: Bmp5^se

Tgfa^wa1

Allele Symbol: Tgfa^wa1

Adamts20^bt

Allele Symbol: Adamts20^bt

Mx1^s1

Allele Symbol: Mx1^s1

Genotype: Adamts20^bt related

Genotype: Bmp5^se related

Genotype: Oca2^p related

Genotype: Tgfa^wa1 related

Genotype: Tyrp1^b related

Genotype: Tgfa^wa1/Tgfa^wa1
Not Specified

Genotype: Bmp5^se/Bmp5^se
Not Specified

Genotype: Oca2^p/Oca2^p
Not Specified

Genotype: Adamts20^bt/Adamts20^bt
involves: DBA/2J

Additional - Adamts20^bt related

Additional - Bmp5^se related

Additional - Mx1^s1 related

Additional - Oca2^p related

Additional - Tgfa^wa1 related

Additional - Tyrp1^b related