Overview

Also Known As:defective lipopolysaccharide response, 2J

Due to demand and low productivity, this colony is being expanded. An estimated distribution date is provided above.

The Tlr4^lps-2Jmutation that occurred in the BXD29 RI strain is characterized by large nodular bilateral subcortical heterotopias with partial callosal agenesis, and exhibit a defect in rapid auditory processing.

Genetic overview

Genetic Background	Generation

Myo5a^d

Allele Type	Gene Symbol	Gene Name
Spontaneous	Myo5a	myosin VA

Tlr4^lps-2J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Tlr4	toll-like receptor 4

tmm

Allele Type	Gene Symbol	Gene Name
Spontaneous	tmm	telencephalic midline malformation

View Genetics

Research Applications

Research Tools
Neurobiology Research
Dermatology Research
Mouse/Human Gene Homologs

View All Research Applications

Details

Detailed Description

The BXD RI strains are used to study the genetics of behavioral phenotypes including alcohol and drug addiction, stress, and locomotor activity. The BXD set of RI strains also is used in the genetic analysis of numerous complex or potentially complex physiologic phenotypes including differences in organ weight and bone mineral density. The strain distribution pattern (SDP) for BXD RI strains is available through the Mouse Genome Informatics Recombinant Inbred Strain Distribution Patterns. This subline of BXD29/Ty is homozygous for the mutation defective lipopolysaccharide response 2 Jackson, which arose spontaneously in the parental strain. The non-mutant parental strain is available as stock number 010981.

In 2011, a spontaneous mutation, telencephalon midline malformation (tmm), was observed in the BXD29-Tlr4^lps-2J/J strain (Rosen G et al, Cereb Cortex 2012 March 27). The mutation is 100% penetrant on this genetic background and is characterized by large nodular bilateral subcortical heterotopias with partial callosal agenesis. Mice perform similar to wild-type in tests for motor coordination (rotarod) and learning/memory (water maze), but exhibit a defect in rapid auditory processing.

Development

The BXD set of RI strains was developed in the laboratory of Benjamin Taylor and was transferred to The Jackson Laboratory from Dr. Taylor's research colony upon his retirement. Of 42 BXD RI strains originally derived from the C57BL/6J (Stock No. 000664) and DBA/2J (Stock No. 000671), a number have become extinct over the years. The other BXD RI strains now being distributed are listed under "Related Recombinant Inbred Strains."

In 2006 Cook et al. reported finding a spontaneous mutation, Tlr4^lps-2J, in the recombinant inbred BXD29 and the nomenclature has been updated to reflect that finding. The mutation is a large insertion composed primarily of a repetitive sequence near the 3' end of Tlr4. The non-mutant form of this recombinant inbred subline is available as stock #010981.

Control Suggestions

None Available

Additional Information

Considerations for Choosing Controls

Selected References

Alexander RC; Wright R; Freed W. 1996. Quantitative trait loci contributing to phencyclidine-induced and amphetamine-induced locomotor behavior in inbred mice. Neuropsychopharmacology 15(5):484-90PubMed: 8914121 MGI: J:36714
Belknap JK; Metten P; Helms ML; O'Toole LA; Angeli-Gade S; Crabbe JC; Phillips TJ. 1993. Quantitative trait loci (QTL) applications to substances of abuse: physical dependence studies with nitrous oxide and ethanol in BXD mice. Behav Genet 23(2):213-22PubMed: 8512534 MGI: J:11831
Belknap JK; Mogil JS; Helms ML; Richards SP; O'Toole LA; Bergeson SE; Buck KJ. 1995. Localization to chromosome 10 of a locus influencing morphine analgesia in crosses derived from C57BL/6 and DBA/2 strains. Life Sci 57(10):PL117-24PubMed: 7643715 MGI: J:28263
Belknap JK; Phillips TJ; O'Toole LA. 1992. Quantitative trait loci associated with brain weight in the BXD/Ty recombinant inbred mouse strains. Brain Res Bull 29(3-4):337-44PubMed: 1393606 MGI: J:2827
Browman KE; Crabbe JC. 2000. Quantitative trait loci affecting ethanol sensitivity in BXD recombinant inbred mice. Alcohol Clin Exp Res 24(1):17-23PubMed: 10656187 MGI: J:66463
Cabib S; Oliverio A; Ventura R; Lucchese F; Puglisi-Allegra S. 1997. Brain dopamine receptor plasticity: testing a diathesis-stress hypothesis in an animal model. Psychopharmacology (Berl) 132(2):153-60PubMed: 9266612 MGI: J:68169
Cook DN; Whitehead GS; Burch LH; Berman KG; Kapadia Z; Wohlford-Lenane C; Schwartz DA. 2006. Spontaneous mutations in recombinant inbred mice: mutant toll-like receptor 4 (Tlr4) in BXD29 mice. Genetics 172(3):1751-5PubMed: 16322526 MGI: J:107391
Crabbe JC. 1998. Provisional mapping of quantitative trait loci for chronic ethanol withdrawal severity in BXD recombinant inbred mice. J Pharmacol Exp Ther 286(1):263-71PubMed: 9655868 MGI: J:49185
Crabbe JC; Belknap JK. 1993. Behavior genetic analyses of drug withdrawal. Alcohol Alcohol Suppl 2:477-82PubMed: 7748342 MGI: J:109922
Crabbe JC; Belknap JK; Mitchell SR; Crawshaw LI. 1994. Quantitative trait loci mapping of genes that influence the sensitivity and tolerance to ethanol-induced hypothermia in BXD recombinant inbred mice. J Pharmacol Exp Ther 269(1):184-92PubMed: 8169823 MGI: J:18566
Cunningham CL. 1995. Localization of genes influencing ethanol-induced conditioned place preference and locomotor activity in BXD recombinant inbred mice. Psychopharmacology (Berl) 120(1):28-41PubMed: 7480533 MGI: J:28135
Gora-Maslak G; McClearn GE; Crabbe JC; Phillips TJ; Belknap JK; Plomin R. 1991. Use of recombinant inbred strains to identify quantitative trait loci in psychopharmacology. Psychopharmacology (Berl) 104(4):413-24PubMed: 1780413 MGI: J:39738
Grisel JE; Belknap JK; O'Toole LA; Helms ML; Wenger CD; Crabbe JC. 1997. Quantitative trait loci affecting methamphetamine responses in BXD recombinant inbred mouse strains. J Neurosci 17(2):745-54PubMed: 8987796 MGI: J:37546
Hofstetter JR; Mayeda AR; Possidente B; Nurnberger JI. 1995. Quantitative trait loci (QTL) for circadian rhythms of locomotor activity in mice. Behav Genet 25(6):545-56PubMed: 8540893 MGI: J:29803
Hofstetter JR; Possidente B; Mayeda AR. 1999. Provisional QTL for circadian period of wheel running in laboratory mice: quantitative genetics of period in RI mice. Chronobiol Int 16(3):269-79PubMed: 10373097 MGI: J:55774
Klein RF; Mitchell SR; Phillips TJ; Belknap JK; Orwoll ES. 1998. Quantitative trait loci affecting peak bone mineral density in mice. J Bone Miner Res 13(11):1648-56PubMed: 9797472 MGI: J:50828
Miner LL; Marley RJ. 1995. Chromosomal mapping of loci influencing sensitivity to cocaine-induced seizures in BXD recombinant inbred strains of mice. Psychopharmacology (Berl) 117(1):62-6PubMed: 7724703 MGI: J:23071
Mogil JS; Richards SP; O'Toole LA; Helms ML; Mitchell SR; Kest B; Belknap JK. 1997. Identification of a sex-specific quantitative trait locus mediating nonopioid stress-induced analgesia in female mice. J Neurosci 17(20):7995-8002PubMed: 9315917 MGI: J:43467
Peleg L; Nesbitt MN. 1984. Genetic control of thymus size in inbred mice. J Hered 75(2):126-30PubMed: 6715864 MGI: J:7417
Phillips TJ; Crabbe JC; Metten P; Belknap JK. 1994. Localization of genes affecting alcohol drinking in mice. Alcohol Clin Exp Res 18(4):931-41PubMed: 7978106 MGI: J:20482
Phillips TJ; Huson M; Gwiazdon C; Burkhart-Kasch S; Shen EH. 1995. Effects of acute and repeated ethanol exposures on the locomotor activity of BXD recombinant inbred mice. Alcohol Clin Exp Res 19(2):269-78PubMed: 7625557 MGI: J:25695
Phillips TJ; Huson MG; McKinnon CS. 1998. Localization of genes mediating acute and sensitized locomotor responses to cocaine in BXD/Ty recombinant inbred mice. J Neurosci 18(8):3023-34PubMed: 9526019 MGI: J:46922
Plomin R; McClearn GE; Gora-Maslak G; Neiderhiser JM. 1991. Use of recombinant inbred strains to detect quantitative trait loci associated with behavior. Behav Genet 21(2):99-116PubMed: 2049054 MGI: J:11248
Quock RM; Mueller JL; Vaughn LK; Belknap JK. 1996. Nitrous oxide antinociception in BXD recombinant inbred mouse strains and identification of quantitative trait loci. Brain Res 725(1):23-9PubMed: 8828582 MGI: J:34065
Roberts AJ; Phillips TJ; Belknap JK; Finn DA; Keith LD. 1995. Genetic analysis of the corticosterone response to ethanol in BXD recombinant inbred mice. Behav Neurosci 109(6):1199-208PubMed: 8748968 MGI: J:31087
Rodriguez LA; Plomin R; Blizard DA; Jones BC; McClearn GE. 1995. Alcohol acceptance, preference, and sensitivity in mice. II. Quantitative trait loci mapping analysis using BXD recombinant inbred strains. Alcohol Clin Exp Res 19(2):367-73PubMed: 7625571 MGI: J:25698
Tarricone BJ; Hwang WG; Hingtgen JN; Mitchell SR; Belknap JK; Nurnberger JI. 1995. Identification of a locus on mouse chromosome 17 associated with high-affinity choline uptake using BXD recombinant inbred mice and quantitative trait loci analysis. Genomics 27(1):161-4PubMed: 7665164 MGI: J:25620
Zidek V; Musilova A; Pintir J; Simakova M; Pravenec M. 1998. Genetic dissection of testicular weight in the mouse with the BXD recombinant inbred strains. Mamm Genome 9(7):503-5PubMed: 9657844 MGI: J:48698

View All References

Genetics

Myo5a^d

Allele Symbol: Myo5a^d

Allele Name	dilute
Allele Type	Spontaneous
Allele Synonym(s)	blue dilution; d; d^v; Maltese dilution
Gene Symbol and Name	Myo5a, myosin VA
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	9
Molecular Note	This mutation is the result of the integration of ecotropic murine leukemia virus Emv-3 into a noncoding region of the Myo5a^d gene. Reversions of Myo5a^d to wild-type are caused by excision of the virus leaving exactly one long terminal repeat in place.

Tlr4^lps-2J

Allele Symbol: Tlr4^lps-2J

Allele Name	defective lipopolysaccharide response 2 Jackson
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Tlr4, toll-like receptor 4
Gene Synonym(s)
Strain of Origin	BXD29-Tlr4^lps-2J/J
Chromosome	4
General Note	Recombinant inbred strain BXD29 carries this allele.
Molecular Note	Attempts to amplify the segment of exon 3 from the C57BL/6J DNA in the BXD29/TyJ strain representing nucleotides 279 - 708 of the cDNA sequence led to the discovery, near the 3' end of the gene, of a large insertion composed primarily of a repetitive sequence which exists in ~ 200 locations throughout the mouse genome. The insertion also includes a 239-bp sequence identical to a segment of Chr 10 between nucleotides 51,365,897 and 51,366,135 (build not identified). None of the endogenous gene is deleted, but the insertion is flanked at both ends by the same 8-nucleotide sequence (TCTTTCTT). Quantitative RT-PCR analysis detects no reduction in transcribed mRNA in peritoneal macrophages from mutant mice; however, these cells are not stained by antibodies against the encoded protein.

tmm

Allele Symbol: tmm

Allele Name	telencephalic midline malformation
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	tmm, telencephalic midline malformation
Gene Synonym(s)
Strain of Origin	BXD29-Tlr4^lps-2J/J
Chromosome	UN

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Research Tools
- Genetics Research
  - Gene Mapping: Tools for QTL Mapping, Segregation and Linkage Analysis
  - Gene Mapping
Neurobiology Research
- Behavioral and Learning Defects
  - genes regulating preferences to alcohol

Genotype: Myo5a^d related

Dermatology Research
- Color and White Spotting Defects
Mouse/Human Gene Homologs
- Griscelli Syndrome

Mammalian Phenotype Terms by Genotype

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

Genotype: Tlr4^lps-2J/Tlr4^lps-2J
BXD29-Tlr4/J

immune system phenotype

abnormal inflammatory response
- in response to inhaled LPS, mice are unresponsive without increases in Tnfa and PMNs like other BXD RI strains

Phenotype Information

Wellcome Trust Centre for Human Genetics: Mouse Recombinant Inbred Line (RIL) Genotype Data for BXD RI Line

References

Alexander RC; Wright R; Freed W. 1996. Quantitative trait loci contributing to phencyclidine-induced and amphetamine-induced locomotor behavior in inbred mice. Neuropsychopharmacology 15(5):484-90PubMed: 8914121 MGI: J:36714
Belknap JK; Metten P; Helms ML; O'Toole LA; Angeli-Gade S; Crabbe JC; Phillips TJ. 1993. Quantitative trait loci (QTL) applications to substances of abuse: physical dependence studies with nitrous oxide and ethanol in BXD mice. Behav Genet 23(2):213-22PubMed: 8512534 MGI: J:11831
Belknap JK; Mogil JS; Helms ML; Richards SP; O'Toole LA; Bergeson SE; Buck KJ. 1995. Localization to chromosome 10 of a locus influencing morphine analgesia in crosses derived from C57BL/6 and DBA/2 strains. Life Sci 57(10):PL117-24PubMed: 7643715 MGI: J:28263
Belknap JK; Phillips TJ; O'Toole LA. 1992. Quantitative trait loci associated with brain weight in the BXD/Ty recombinant inbred mouse strains. Brain Res Bull 29(3-4):337-44PubMed: 1393606 MGI: J:2827
Browman KE; Crabbe JC. 2000. Quantitative trait loci affecting ethanol sensitivity in BXD recombinant inbred mice. Alcohol Clin Exp Res 24(1):17-23PubMed: 10656187 MGI: J:66463
Cabib S; Oliverio A; Ventura R; Lucchese F; Puglisi-Allegra S. 1997. Brain dopamine receptor plasticity: testing a diathesis-stress hypothesis in an animal model. Psychopharmacology (Berl) 132(2):153-60PubMed: 9266612 MGI: J:68169
Cook DN; Whitehead GS; Burch LH; Berman KG; Kapadia Z; Wohlford-Lenane C; Schwartz DA. 2006. Spontaneous mutations in recombinant inbred mice: mutant toll-like receptor 4 (Tlr4) in BXD29 mice. Genetics 172(3):1751-5PubMed: 16322526 MGI: J:107391
Crabbe JC. 1998. Provisional mapping of quantitative trait loci for chronic ethanol withdrawal severity in BXD recombinant inbred mice. J Pharmacol Exp Ther 286(1):263-71PubMed: 9655868 MGI: J:49185
Crabbe JC; Belknap JK. 1993. Behavior genetic analyses of drug withdrawal. Alcohol Alcohol Suppl 2:477-82PubMed: 7748342 MGI: J:109922
Crabbe JC; Belknap JK; Mitchell SR; Crawshaw LI. 1994. Quantitative trait loci mapping of genes that influence the sensitivity and tolerance to ethanol-induced hypothermia in BXD recombinant inbred mice. J Pharmacol Exp Ther 269(1):184-92PubMed: 8169823 MGI: J:18566
Cunningham CL. 1995. Localization of genes influencing ethanol-induced conditioned place preference and locomotor activity in BXD recombinant inbred mice. Psychopharmacology (Berl) 120(1):28-41PubMed: 7480533 MGI: J:28135
Gora-Maslak G; McClearn GE; Crabbe JC; Phillips TJ; Belknap JK; Plomin R. 1991. Use of recombinant inbred strains to identify quantitative trait loci in psychopharmacology. Psychopharmacology (Berl) 104(4):413-24PubMed: 1780413 MGI: J:39738
Grisel JE; Belknap JK; O'Toole LA; Helms ML; Wenger CD; Crabbe JC. 1997. Quantitative trait loci affecting methamphetamine responses in BXD recombinant inbred mouse strains. J Neurosci 17(2):745-54PubMed: 8987796 MGI: J:37546
Hofstetter JR; Mayeda AR; Possidente B; Nurnberger JI. 1995. Quantitative trait loci (QTL) for circadian rhythms of locomotor activity in mice. Behav Genet 25(6):545-56PubMed: 8540893 MGI: J:29803
Hofstetter JR; Possidente B; Mayeda AR. 1999. Provisional QTL for circadian period of wheel running in laboratory mice: quantitative genetics of period in RI mice. Chronobiol Int 16(3):269-79PubMed: 10373097 MGI: J:55774
Klein RF; Mitchell SR; Phillips TJ; Belknap JK; Orwoll ES. 1998. Quantitative trait loci affecting peak bone mineral density in mice. J Bone Miner Res 13(11):1648-56PubMed: 9797472 MGI: J:50828
Miner LL; Marley RJ. 1995. Chromosomal mapping of loci influencing sensitivity to cocaine-induced seizures in BXD recombinant inbred strains of mice. Psychopharmacology (Berl) 117(1):62-6PubMed: 7724703 MGI: J:23071
Mogil JS; Richards SP; O'Toole LA; Helms ML; Mitchell SR; Kest B; Belknap JK. 1997. Identification of a sex-specific quantitative trait locus mediating nonopioid stress-induced analgesia in female mice. J Neurosci 17(20):7995-8002PubMed: 9315917 MGI: J:43467
Peleg L; Nesbitt MN. 1984. Genetic control of thymus size in inbred mice. J Hered 75(2):126-30PubMed: 6715864 MGI: J:7417
Phillips TJ; Crabbe JC; Metten P; Belknap JK. 1994. Localization of genes affecting alcohol drinking in mice. Alcohol Clin Exp Res 18(4):931-41PubMed: 7978106 MGI: J:20482
Phillips TJ; Huson M; Gwiazdon C; Burkhart-Kasch S; Shen EH. 1995. Effects of acute and repeated ethanol exposures on the locomotor activity of BXD recombinant inbred mice. Alcohol Clin Exp Res 19(2):269-78PubMed: 7625557 MGI: J:25695
Phillips TJ; Huson MG; McKinnon CS. 1998. Localization of genes mediating acute and sensitized locomotor responses to cocaine in BXD/Ty recombinant inbred mice. J Neurosci 18(8):3023-34PubMed: 9526019 MGI: J:46922
Plomin R; McClearn GE; Gora-Maslak G; Neiderhiser JM. 1991. Use of recombinant inbred strains to detect quantitative trait loci associated with behavior. Behav Genet 21(2):99-116PubMed: 2049054 MGI: J:11248
Quock RM; Mueller JL; Vaughn LK; Belknap JK. 1996. Nitrous oxide antinociception in BXD recombinant inbred mouse strains and identification of quantitative trait loci. Brain Res 725(1):23-9PubMed: 8828582 MGI: J:34065
Roberts AJ; Phillips TJ; Belknap JK; Finn DA; Keith LD. 1995. Genetic analysis of the corticosterone response to ethanol in BXD recombinant inbred mice. Behav Neurosci 109(6):1199-208PubMed: 8748968 MGI: J:31087
Rodriguez LA; Plomin R; Blizard DA; Jones BC; McClearn GE. 1995. Alcohol acceptance, preference, and sensitivity in mice. II. Quantitative trait loci mapping analysis using BXD recombinant inbred strains. Alcohol Clin Exp Res 19(2):367-73PubMed: 7625571 MGI: J:25698
Tarricone BJ; Hwang WG; Hingtgen JN; Mitchell SR; Belknap JK; Nurnberger JI. 1995. Identification of a locus on mouse chromosome 17 associated with high-affinity choline uptake using BXD recombinant inbred mice and quantitative trait loci analysis. Genomics 27(1):161-4PubMed: 7665164 MGI: J:25620
Zidek V; Musilova A; Pintir J; Simakova M; Pravenec M. 1998. Genetic dissection of testicular weight in the mouse with the BXD recombinant inbred strains. Mamm Genome 9(7):503-5PubMed: 9657844 MGI: J:48698

Additional References

Belknap JK; Crabbe JC; Plomin R; McClearn GE; Sampson KE; O'Toole LA; Gora-Maslak G. 1992. Single-locus control of saccharin intake in BXD/Ty recombinant inbred (RI) mice: some methodological implications for RI strain analysis. Behav Genet 22(1):81-100PubMed: 1590732 MGI: J:1952
Jenkins NA; Copeland NG; Taylor BA; Lee BK. 1981. Dilute (d) coat colour mutation of DBA/2J mice is associated with the site of integration of an ecotropic MuLV genome. Nature 293(5831):370-4PubMed: 6268990 MGI: J:6587
Rosen GD; Azoulay NG; Griffin EG; Newbury A; Koganti L; Fujisaki N; Takahashi E; Grant PE; Truong DT; Fitch RH; Lu L; Williams RW. 2013. Bilateral subcortical heterotopia with partial callosal agenesis in a mouse mutant. Cereb Cortex 23(4):859-72PubMed: 22455839 MGI: J:184128

Additional - Myo5a^d related

Additional - Tlr4^lps-2J related

Additional - tmm related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Mating System
- Sibling x Sibling
Appearance
- steel grey
  Related Genotype: a/a Tyrp1⁺/Tyrp1⁺ Myo5a^d/Myo5a^d

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:defective lipopolysaccharide response, 2J

Genetic overview

Research Applications

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Myo5ad

Allele Symbol: Myo5ad

Tlr4lps-2J

Allele Symbol: Tlr4lps-2J

tmm

Allele Symbol: tmm

Disease Terms

Research Areas By Phenotype

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

Genotype: Myo5ad related

Mammalian Phenotype Terms by Genotype

Genotype: Tlr4lps-2J/Tlr4lps-2JBXD29-Tlr4/J

immune system phenotype

Phenotype Information

References

Additional References

Additional - Myo5ad related

Additional - Tlr4lps-2J related

Additional - tmm related

Genotyping Protocols

Mating System

Appearance

Terms Of Use

Licensing Information

Myo5a^d

Allele Symbol: Myo5a^d

Tlr4^lps-2J

Allele Symbol: Tlr4^lps-2J

Genotype: Myo5a^d related

Genotype: Tlr4^lps-2J/Tlr4^lps-2J
BXD29-Tlr4/J

Additional - Myo5a^d related

Additional - Tlr4^lps-2J related