Description

Strain Information

Former Names 129X1    (Changed: 06-JUN-07 ) 129/SvJ    (Changed: 19-APR-07 ) Type Inbred Strain; Additional information on Inbred Strains. Mating System Sibling x Sibling         (Female x Male) Species laboratory mouse H2 Haplotype b Generation F122 (03-JAN-08)

Appearance
pink-eyed, light-bellied, light chinchilla
Related Genotype: A^w/A^w Oca2^p Tyr^c-ch/Oca2^p Tyr^c

albino
Related Genotype: A^w/A^w Oca2^p Tyr^c/Oca2^p Tyr^c

Important Note
This strain is homozygous for Cdh23^ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss with onset prior to three months of age.

Description
Historically, the 129 inbred mice are known for the high incidence of spontaneous testicular teratomas, though the incidence differs between substrains. (1-3% in 129 parental substrains; 30% in teratoma substrains.) More recently 129 mice are widely used in the production of targeted mutations due to the availability of multiple embryonic stem cell lines derived from them. There is major genetic variation within the 129 "family", which has led to an update of the nomenclature and a division of the substrains into three major groups: parental substrains (129P), steel substrains (129S) and "teratoma" substrains (129T). Investigators using 129 substrains for targeted mutagenesis should be careful in the selection of the appropriate 129 substrain to match the embryonic stem cell line. For a complete history of the numerous 129 substrains, see Simpson et al. 1997.

In response to challenge, 129S1/SvImJ mice develop immune-mediated nephritis characterized by proteinuria, glomerulonephritis and tubulointerstitial disease (Xie et al. 2004).

White et al. reported a variation in thioglycolate medium-induced peritoneal leukocyte recruitment in 4 analyzed strains. The response of total leukocyte recruitment, from greatest to least, was C57BL/6J>BALB/c>CD1>129X1/SvJ. Variations were also found in the timeline of response and cell types most impacted.

Related Strains

129 Strains

001137	129P1/ReJ
000690	129P3/J
002357	129P3/JEmsJ
001198	129P4/RrRkJ
002448	129S1/SvImJ
002064	129T2/SvEms
002065	129T2/SvEmsJ

View 129 Strains     (7 strains)

Strains carrying   Cdh23^ahl allele

001137	129P1/ReJ
000690	129P3/J
000646	A/J
000647	A/WySnJ
003070	ALR/LtJ
003072	ALS/LtJ
004502	B6;AKR-Lxl2/J
001026	BALB/cByJ
000653	BUB/BnJ
005494	C3.129S1(B6)-Grm1rcw/J
000664	C57BL/6J
004764	C57BL/6J-Cdh23v-8J/J
003129	C57BL/6J-Epha4rb-2J/J
004820	C57BL/6J-Kcne12J/J
004703	C57BL/6J-Kcnq2Nmf134/J
004811	C57BL/6J-nmf110/J
004812	C57BL/6J-nmf111/J
004747	C57BL/6J-nmf118/J
004656	C57BL/6J-nmf88/J
004391	C57BL/6J-Chr 13A/J/NaJ
004385	C57BL/6J-Chr 7A/J/NaJ
000662	C57BLKS/J
000667	C57BR/cdJ
000668	C57L/J
000669	C58/J
000657	CE/J
000670	DBA/1J
001140	DBA/1LacJ
000671	DBA/2J
007048	DBA/2J-Gpnmb+/SjJ
002106	KK/HlJ
000675	LG/J
000676	LP/J
000677	MA/MyJ
001976	NOD/ShiLtJ
002050	NOR/LtJ
000679	P/J
002747	SENCARB/PtJ
002335	SKH2/J
003392	STOCK Crb1rd8/J

View Strains carrying   Cdh23^ahl     (40 strains)

Strains carrying   Disc1^del allele

001137	129P1/ReJ
000690	129P3/J
001198	129P4/RrRkJ
002448	129S1/SvImJ
002064	129T2/SvEms
002065	129T2/SvEmsJ
002282	BTBR T+ tf/J
000676	LP/J

View Strains carrying   Disc1^del     (8 strains)

Strains carrying   Poli^d allele

001137	129P1/ReJ
000690	129P3/J

View Strains carrying   Poli^d     (2 strains)

Strains carrying other alleles of Cdh23

008288	B6(Cg)-Cdh23v-11J/J
002756	B6.CAST-Cdh23Ahl+/Kjn
002432	B6J x B6.C-H2bm1/ByJ-Cdh23v-J/J
002552	C57BL/6J-Cdh23v-2J/J
004764	C57BL/6J-Cdh23v-8J/J
004819	C57BL/6J-Cdh23v-9J/J
005016	CByJ;B6-Cdh23v-10J/J
000275	V/LeJ

View Strains carrying other alleles of Cdh23     (8 strains)

Additional Web Information

Genetic Quality Control Annual Report
JAX^® NOTES, April 1988; 433. H-2 Haplotypes of Mice from Jackson Laboratory Production Colonies.
JAX^® NOTES, February 2001; 481. 129X1/SvJ Genetically Contaminated.
JAX^® NOTES, Spring 1990; 441. Coat Colors of Sublines of 129 Mice.
National Center for Biotechnology Information / SNP Data
New 129 Nomenclature Bulletin

Phenotype

Phenotype Information

View Phenotypic Data

Phenotypic Data

Mouse Phenome Database
Mouse Phenome Database / SNP Facility
Festing Inbred Strain Characteristics: 129

View Research Applications

Research Applications

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

Cancer Research
Increased Tumor Incidence (Gonadal Tumors: testicular teratomas)

Neurobiology Research
Angelman syndrome
Vestibular and Hearing Defects (Age related hearing loss)

Reproductive Biology Research
Gonadal Tumors (testicular teratomas)

Research Tools
General Purpose
Genetics Research (Mutagenesis and Transgenesis: Production of Targeted Mutations ("Knockouts"))

Sensorineural Research
Vestibular and Hearing Defects (Age related hearing loss)

Cdh23^ahl related

Neurobiology Research
Vestibular and Hearing Defects (Age related hearing loss)

Sensorineural Research
Vestibular and Hearing Defects (Age related hearing loss)

Genes & Alleles

Gene & Allele Information

Allele Symbol		Cdh23ahl
Allele Name		age related hearing loss 1
Allele Type		QTL
Common Name(s)		Cdh23753A; mdfw;
Strain of Origin		multiple strains
Gene Symbol and Name		Cdh23, cadherin 23 (otocadherin)
Chromosome		10
Gene Common Name(s)		4930542A03Rik; DFNB12; DKFZp434P2350; FLJ00233; FLJ36499; KIAA1774; KIAA1812; MGC102761; RIKEN cDNA 4930542A03 gene; USH1D; age related hearing loss 1; ahl; bob; bobby; bus; bustling; mdfw; modifier of deaf waddler; neuroscience mutagenesis facility, 112; neuroscience mutagenesis facility, 181; neuroscience mutagenesis facility, 252; nmf112; nmf181; nmf252; v; waltzer;
Molecular Note		Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has identified an association between ahl and a G to A transition at nucleotide position 753 of Cdh23. This hypomorphic allele causes in frame skipping of exon 7 and reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD1, 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/LyJ, 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. [MGI Ref ID J:86905]
Allele Symbol		Disc1del
Allele Name		deletion
Allele Type		Spontaneous
Common Name(s)		Disc1129S6;
Strain of Origin		various
Gene Symbol and Name		Disc1, disrupted in schizophrenia 1
Chromosome		8
Gene Common Name(s)		C1orf136; FLJ13381; FLJ21640; FLJ25311; FLJ41105; KIAA0457; SCZD9;
General Note		This deletion appears in multiple strains of the 129 superfamily. See J:111837 for details. This deletion has further been identified in the following strains:101/RI, BTBR T+ Tf/J and LP/J J:118317
Molecular Note		A 25 bp deletion of the locus causes a frame shift in the reading frame, resulting in 13 novel amino acids and a premature stop codon at exon 7. [MGI Ref ID J:107244]
Allele Symbol		Polid
Allele Name		polymerase iota deficient
Allele Type		Spontaneous
Common Name(s)		Poli-;
Strain of Origin		129
Gene Symbol and Name		Poli, polymerase (DNA directed), iota
Chromosome		18
Gene Common Name(s)		RAD30 (S. cerevisiae) homolog B; RAD30B; RAD3OB; Rad30b;
Molecular Note		A nonsense mutation changes codon 27 from serine (TCG) to an amber stop codon (TAG), and results in a truncated protein lacking any catalytic function. The allele was present in every 129 strain analyzed, including 129P3/J, 129X1/SvJ, 129P1/ReJ and 129P2/Ola. C57BL/6J mice did not contain the mutation. [MGI Ref ID J:85061]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Festing MF; Simpson EM; Davisson MT; Mobraaten LE. 1999. Revised nomenclature for strain 129 mice. Mamm Genome 10(8):836. [PubMed: 10430671]  [MGI Ref ID J:56500]

Simpson EM; Linder CC; Sargent EE; Davisson MT; Mobraaten LE; Sharp JJ. 1997. Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice. Nat Genet 16(1):19-27. [PubMed: 9140391]  [MGI Ref ID J:40222]

Stevens LC. 1973. A new inbred subline of mice (129-terSv) with a high incidence of spontaneous congenital testicular teratomas. J Natl Cancer Inst 50(1):235-42. [PubMed: 4692863]  [MGI Ref ID J:29502]

Threadgill DW; Yee D; Matin A; Nadeau JH; Magnuson T. 1997. Genealogy of the 129 inbred strains: 129/SvJ is a contaminated inbred strain. Mamm Genome 8(6):390-3. [PubMed: 9166580]  [MGI Ref ID J:40661]

Additional References

Bultman SJ; Klebig ML; Michaud EJ; Sweet HO; Davisson MT; Woychik RP. 1994. Molecular analysis of reverse mutations from nonagouti (a) to black-and-tan (a(t)) and white-bellied agouti (Aw) reveals alternative forms of agouti transcripts. Genes Dev 8(4):481-90. [PubMed: 8125260]  [MGI Ref ID J:16984]

Clapcote SJ; Roder JC. 2006. Deletion polymorphism of disc1 is common to all 129 mouse substrains: implications for gene-targeting studies of brain function. Genetics 173(4):2407-10. [PubMed: 16751659]  [MGI Ref ID J:111837]

Roberts JE; Watters JW; Ballard JD; Dietrich WF. 1998. Ltx1, a mouse locus that influences the susceptibility of macrophages to cytolysis caused by intoxication with Bacillus anthracis lethal factor, maps to chromosome 11. Mol Microbiol 29(2):581-91. [PubMed: 9720874]  [MGI Ref ID J:49726]

Xie C; Sharma R; Wang H; Zhou XJ; Mohan C. 2004. Strain distribution pattern of susceptibility to immune-mediated nephritis. J Immunol 172(8):5047-55. [PubMed: 15067087]  [MGI Ref ID J:122988]

Zheng QY; Johnson KR; Erway LC. 1999. Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses. Hear Res 130(1-2):94-107. [PubMed: 10320101]  [MGI Ref ID J:54812]

Cdh23^ahl related

Davis RR; Newlander JK; Ling X; Cortopassi GA; Krieg EF; Erway LC. 2001. Genetic basis for susceptibility to noise-induced hearing loss in mice. Hear Res 155(1-2):82-90. [PubMed: 11335078]  [MGI Ref ID J:69679]

Di Palma F; Pellegrino R; Noben-Trauth K. 2001. Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). Gene 281(1-2):31-41. [PubMed: 11750125]  [MGI Ref ID J:73941]

Johnson KR; Erway LC; Cook SA; Willott JF; Zheng QY. 1997. A major gene affecting age-related hearing loss in C57BL/6J mice Hear Res 114(1-2):83-92. [PubMed: 9447922]  [MGI Ref ID J:44966]

Johnson KR; Longo-Guess C; Gagnon LH; Yu H; Zheng QY. 2008. A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice. Genomics 92(4):219-25. [PubMed: 18662770]  [MGI Ref ID J:139223]

Johnson KR; Zheng QY; Noben-Trauth K. 2006. Strain background effects and genetic modifiers of hearing in mice. Brain Res 1091(1):79-88. [PubMed: 16579977]  [MGI Ref ID J:110459]

Johnson KR; Zheng QY; Weston MD; Ptacek LJ; Noben-Trauth K. 2005. The Mass1(frings) mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. Genomics 85(5):582-90. [PubMed: 15820310]  [MGI Ref ID J:97534]

Keithley EM; Canto C; Zheng QY; Fischel-Ghodsian N; Johnson KR. 2004. Age-related hearing loss and the ahl locus in mice. Hear Res 188(1-2):21-8. [PubMed: 14759567]  [MGI Ref ID J:87783]

Liu X; Bulgakov OV; Darrow KN; Pawlyk B; Adamian M; Liberman MC; Li T. 2007. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci U S A 104(11):4413-8. [PubMed: 17360538]  [MGI Ref ID J:118927]

Mathews CE; Leiter EH. 1999. Resistance of ALR/Lt islets to free radical-mediated diabetogenic stress is inherited as a dominant trait. Diabetes 48(11):2189-96. [PubMed: 10535453]  [MGI Ref ID J:109893]

Noben-Trauth K; Zheng QY; Johnson KR. 2003. Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Nat Genet 35(1):21-3. [PubMed: 12910270]  [MGI Ref ID J:86905]

Noben-Trauth K; Zheng QY; Johnson KR; Nishina PM. 1997. mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics 44(3):266-72. [PubMed: 9325047]  [MGI Ref ID J:38429]

Vazquez AE; Jimenez AM; Martin GK; Luebke AE; Lonsbury-Martin BL. 2004. Evaluating cochlear function and the effects of noise exposure in the B6.CAST+Ahl mouse with distortion product otoacoustic emissions. Hear Res 194(1-2):87-96. [PubMed: 15276680]  [MGI Ref ID J:117746]

Zheng QY; Johnson KR. 2001. Hearing loss associated with the modifier of deaf waddler (mdfw) locus corresponds with age-related hearing loss in 12 inbred strains of mice. Hear Res 154(1-2):45-53. [PubMed: 11423214]  [MGI Ref ID J:70964]

Disc1^del related

Clapcote SJ; Roder JC. 2006. Deletion polymorphism of disc1 is common to all 129 mouse substrains: implications for gene-targeting studies of brain function. Genetics 173(4):2407-10. [PubMed: 16751659]  [MGI Ref ID J:111837]

Clapcote SJ; Roder JC. 2007. Inbred mouse strains 101/RI, BTBR T tf/J and LP/J have a deletion in Disc1 MGI Direct Data Submission :.  [MGI Ref ID J:118317]

Koike H; Arguello PA; Kvajo M; Karayiorgou M; Gogos JA. 2006. Disc1 is mutated in the 129S6/SvEv strain and modulates working memory in mice. Proc Natl Acad Sci U S A 103(10):3693-7. [PubMed: 16484369]  [MGI Ref ID J:107244]

Poli^d related

Delbos F; De Smet A; Faili A; Aoufouchi S; Weill JC; Reynaud CA. 2005. Contribution of DNA polymerase {eta} to immunoglobulin gene hypermutation in the mouse. J Exp Med 201(8):1191-6. [PubMed: 15824086]  [MGI Ref ID J:98037]

Dumstorf CA; Clark AB; Lin Q; Kissling GE; Yuan T; Kucherlapati R; McGregor WG; Kunkel TA. 2006. Participation of mouse DNA polymerase iota in strand-biased mutagenic bypass of UV photoproducts and suppression of skin cancer. Proc Natl Acad Sci U S A 103(48):18083-8. [PubMed: 17114294]  [MGI Ref ID J:117079]

Lee GH; Matsushita H. 2005. Genetic linkage between Pol iota deficiency and increased susceptibility to lung tumors in mice. Cancer Sci 96(5):256-9. [PubMed: 15904465]  [MGI Ref ID J:101114]

Martomo SA; Yang WW; Vaisman A; Maas A; Yokoi M; Hoeijmakers JH; Hanaoka F; Woodgate R; Gearhart PJ. 2006. Normal hypermutation in antibody genes from congenic mice defective for DNA polymerase iota. DNA Repair (Amst) 5(3):392-8. [PubMed: 16443401]  [MGI Ref ID J:107217]

McDonald JP; Frank EG; Plosky BS; Rogozin IB; Masutani C; Hanaoka F; Woodgate R; Gearhart PJ. 2003. 129-derived strains of mice are deficient in DNA polymerase iota and have normal immunoglobulin hypermutation. J Exp Med 198(4):635-43. [PubMed: 12925679]  [MGI Ref ID J:85061]

Ohkumo T; Kondo Y; Yokoi M; Tsukamoto T; Yamada A; Sugimoto T; Kanao R; Higashi Y; Kondoh H; Tatematsu M; Masutani C; Hanaoka F. 2006. UV-B radiation induces epithelial tumors in mice lacking DNA polymerase eta and mesenchymal tumors in mice deficient for DNA polymerase iota. Mol Cell Biol 26(20):7696-706. [PubMed: 17015482]  [MGI Ref ID J:115000]

Shimizu T; Azuma T; Ishiguro M; Kanjo N; Yamada S; Ohmori H. 2005. Normal immunoglobulin gene somatic hypermutation in Pol kappa-Pol iota double-deficient mice. Immunol Lett 98(2):259-64. [PubMed: 15860226]  [MGI Ref ID J:105111]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           MP21

Colony Maintenance

Mating System	Sibling x Sibling         (Female x Male)
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply	Level 2. Up to 100 mice. Larger quantities or custom orders arranged upon request.
Supply Notes	Shipped at a specific age in weeks. Mice at a precise age in days, littermates and retired breeders are also available. Strains that must be genotyped are not available until five to seven weeks of age. Genomic DNA is available for this strain from the Mouse DNA Resource.
Important Note	This strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss with onset prior to three months of age.

General Terms and Conditions

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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.

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phone:	207-288-6470
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JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (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 with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

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