Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Inbred Strain; Additional information on Inbred Strains. Visit our online Nomenclature tutorial. Species laboratory mouse H2 Haplotype b Generation F107p Generation Definitions

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

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 between three and five months of age.

Description
For a complete history of the numerous 129 substrains please refer to Simpson, et al., 1997. Historically, the 129 inbred mice are known for the high incidence of spontaneous testicular teratomas, though the incidence differs between substrains. Most recently 129 mice are widely used strain in the production of targeted mutations due to the availability of several lines of embryonic stem cells. There is major genetic variation within the 129 "family", which has led to an update of the nomenclature and a division of substrains into three major groups: parental substrains, steel substrains and "ter" substrains. 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.

Related Strains

129 Strains

000690	129P3/J
002357	129P3/JEmsJ
001198	129P4/RrRkJ
002448	129S1/SvImJ
009104	129S4/SvJaeJ
012809	129S8/SvEvNimrJ
002064	129T2/SvEms
002065	129T2/SvEmsJ
000691	129X1/SvJ

View 129 Strains     (9 strains)

Strains carrying   Cdh23^ahl allele

000690	129P3/J
000691	129X1/SvJ
000646	A/J
000647	A/WySnJ
003070	ALR/LtJ
003072	ALS/LtJ
004502	B6;AKR-Lxl2/GrsrJ
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/GrsrJ
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
010614	CBACa.B6-Cdh23ahl/Kjn
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     (41 strains)

Strains carrying   Disc1^del allele

000690	129P3/J
001198	129P4/RrRkJ
002448	129S1/SvImJ
002064	129T2/SvEms
002065	129T2/SvEmsJ
000691	129X1/SvJ
002282	BTBR T+ Itpr3tf/J
002243	DDY/JclSidSeyFrkJ
001800	FVB/NJ
000676	LP/J
000686	SJL/J
000689	SWR/J

View Strains carrying   Disc1^del     (12 strains)

Strains carrying   Poli^d allele

000690	129P3/J
000691	129X1/SvJ

View Strains carrying   Poli^d     (2 strains)

Strains carrying other alleles of Cdh23

002552	B6(V)-Cdh23v-2J/J
002756	B6.CAST-Cdh23Ahl+/Kjn
010615	B6.CBACa-Cdh23CBA/CaJ/Kjn
002432	B6J x B6.C-H2-Kbm1/ByJ-Cdh23v-J/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

JAX^® NOTES, April 1988; 433. H-2 Haplotypes of Mice from Jackson Laboratory Production Colonies.
JAX^® NOTES, Spring 1990; 441. Coat Colors of Sublines of 129 Mice.
New 129 Nomenclature Bulletin

Phenotype

Phenotype Information

View Phenotypic Data

Phenotypic Data

Mouse Phenome Database
Festing Inbred Strain Characteristics: 129

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Deafness, Autosomal Recessive 12; DFNB12   (CDH23) Schizophrenia 9; SCZD9   (DISC1) Schizophrenia; SCZD   (DISC1) Usher Syndrome, Type ID; USH1D   (CDH23)

View Research Applications

Research Applications

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

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

Neurobiology Research
Angelman syndrome
Hearing Defects
      Age related hearing loss

Reproductive Biology Research
Gonadal Tumors
      testicular teratomas

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

Sensorineural Research
Hearing Defects
      Age related hearing loss

Cdh23^ahl related

Neurobiology Research
Hearing Defects
      Age related hearing loss

Sensorineural Research
Hearing Defects
      Age related hearing loss

Genes & Alleles

Gene & Allele Information provided by MGI

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; CDHR23; RIKEN cDNA 4930542A03 gene; USH1D; W; 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; sals; salsa; 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/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. [MGI Ref ID J:86905]
Allele Symbol		Disc1del
Allele Name		deletion
Allele Type		Spontaneous
Common Name(s)		Disc1129S6; Disc1delta6;
Strain of Origin		various
Gene Symbol and Name		Disc1, disrupted in schizophrenia 1
Chromosome		8
Gene Common Name(s)		C1orf136; SCZD9;
General Note		This deletion appears in multiple strains of the 129 superfamily, 101/RI, BTBR T+ tf/J, LP/J, FVB/NJ, SJL/J, SWR/J and DDY/JclSidSeyFrkJ (J:111837, J:195189).
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

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

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):902-11. [PubMed: 15081119]  [MGI Ref ID J:89298]

Additional References

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]

Rohan RM; Fernandez A; Udagawa T; Yuan J; D'Amato RJ. 2000. Genetic heterogeneity of angiogenesis in mice. FASEB J 14(7):871-6. [PubMed: 10783140]  [MGI Ref ID J:61808]

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]

Cdh23^ahl related

Bosco A; Crish SD; Steele MR; Romero CO; Inman DM; Horner PJ; Calkins DJ; Vetter ML. 2012. Early reduction of microglia activation by irradiation in a model of chronic glaucoma. PLoS One 7(8):e43602. [PubMed: 22952717]  [MGI Ref ID J:191663]

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]

Fetoni AR; Picciotti PM; Paludetti G; Troiani D. 2011. Pathogenesis of presbycusis in animal models: a review. Exp Gerontol 46(6):413-25. [PubMed: 21211561]  [MGI Ref ID J:186964]

Han F; Yu H; Tian C; Chen HE; Benedict-Alderfer C; Zheng Y; Wang Q; Han X; Zheng QY. 2010. A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs. Pharmacogenomics J :. [PubMed: 20644563]  [MGI Ref ID J:174758]

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; Yu H; Ding D; Jiang H; Gagnon LH; Salvi RJ. 2010. Separate and combined effects of Sod1 and Cdh23 mutations on age-related hearing loss and cochlear pathology in C57BL/6J mice. Hear Res 268(1-2):85-92. [PubMed: 20470874]  [MGI Ref ID J:163035]

Johnson KR; Zheng QY; Bykhovskaya Y; Spirina O; Fischel-Ghodsian N. 2001. A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice. Nat Genet 27(2):191-4. [PubMed: 11175788]  [MGI Ref ID J:67312]

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]

Kane KL; Longo-Guess CM; Gagnon LH; Ding D; Salvi RJ; Johnson KR. 2012. Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice. Hear Res 283(1-2):80-8. [PubMed: 22138310]  [MGI Ref ID J:183757]

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]

Manji SS; Williams LH; Miller KA; Ooms LM; Bahlo M; Mitchell CA; Dahl HH. 2011. A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart. PLoS One 6(3):e17607. [PubMed: 21423608]  [MGI Ref ID J:171701]

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]

Nadeau JH. 2003. Modifier genes and protective alleles in humans and mice. Curr Opin Genet Dev 13(3):290-5. [PubMed: 12787792]  [MGI Ref ID J:88012]

Noben-Trauth K; Latoche JR; Neely HR; Bennett B. 2010. Phenotype and genetics of progressive sensorineural hearing loss (Snhl1) in the LXS set of recombinant inbred strains of mice. PLoS One 5(7):e11459. [PubMed: 20628639]  [MGI Ref ID J:163117]

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]

Perrin BJ; Sonnemann KJ; Ervasti JM. 2010. beta-actin and gamma-actin are each dispensable for auditory hair cell development but required for Stereocilia maintenance. PLoS Genet 6(10):e1001158. [PubMed: 20976199]  [MGI Ref ID J:167543]

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]

Zheng QY; Scarborough JD; Zheng Y; Yu H; Choi D; Gillespie PG. 2012. Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. Hum Mol Genet 21(11):2588-98. [PubMed: 22381527]  [MGI Ref ID J:183898]

Zilberstein Y; Liberman MC; Corfas G. 2012. Inner hair cells are not required for survival of spiral ganglion neurons in the adult cochlea. J Neurosci 32(2):405-10. [PubMed: 22238076]  [MGI Ref ID J:179911]

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]

Kuroda K; Yamada S; Tanaka M; Iizuka M; Yano H; Mori D; Tsuboi D; Nishioka T; Namba T; Iizuka Y; Kubota S; Nagai T; Ibi D; Wang R; Enomoto A; Isotani-Sakakibara M; Asai N; Kimura K; Kiyonari H; Abe T; Mizoguchi A; Sokabe M; Takahashi M; Yamada K; Kaibuchi K. 2011. Behavioral alterations associated with targeted disruption of exons 2 and 3 of the Disc1 gene in the mouse. Hum Mol Genet 20(23):4666-83. [PubMed: 21903668]  [MGI Ref ID J:177560]

Ritchie D; Clapcote S. 2013. Disc1 deletion is present in Swiss-derived inbred mouse strains: implications for transgenic studies of learning and memory. Lab Anim :. [PubMed: 23563120]  [MGI Ref ID J:195189]

Zou H; Yu Y; Sheikh AM; Malik M; Yang K; Wen G; Chadman KK; Brown WT; Li X. 2011. Association of upregulated Ras/Raf/ERK1/2 signaling with autism. Genes Brain Behav 10(5):615-24. [PubMed: 21595826]  [MGI Ref ID J:185685]

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

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

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

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 between three and five months of age.

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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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