Strain Name:

C57BL/6J-Cdh23v-8J/J

Stock Number:

004764

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Availability:

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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

Former Names C57BL/6J-Cdh23nmf112/J    (Changed: 15-DEC-04 )
C57BL/6J-nmf112    (Changed: 15-DEC-04 )
C57BL/6J-nmf112/J    (Changed: 15-DEC-04 )
NMF112    (Changed: 15-DEC-04 )
Type Chemically Induced Mutation; Coisogenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
H2 Haplotypeb

Appearance
black,circling with head tilt
Related Genotype: A/A Cdh23v-8J/Cdh23v-8J

black, unaffected
Related Genotype: A/A Cdh23v-8J/Cdh23ahl

Important Note
This C57BL/6J background strain is segregating for the age related hearing loss mutation Cdh23ahl, which in the homozygous state causes progressive hearing loss with onset after 10 months of age.

Description
The mutants were initially detected based on abnormal pre-pulse-inhibition test results. They were subsequently observed to exhibit a slight head tilt and circling behavior (onset at approximately 4 weeks of age), and the mutant line was established based on the overt phenotype. Testing of auditory brainstem responses revealed the mutants (n=4) to be deaf. The vestibular abnormality of nmf112 was mapped as a recessive phenotype in 19 affected and 20 unaffected (C57BL/6J-nmf112 x BALB/cByJ) F2 intercross mice, and the best linkage was to D10Mit138 (LOD = 7.0) and D10Mit15 (LOD = 6.1). Because of the map position of this mutation and its phenotypic similarity to the waltzer mutations, a series of complementation tests was performed to determine if allelic relationships exist between NMF112, NMF181, NMF252 and Cdh23. The results showed NMF112 to be an allele of NMF181 (one mating produced 2 mutants in a total of 7 progeny), of NMF252 (one mating produced 2 mutants in a total of 5 progeny) and therefore of Cdh23, since NMF252 has been identified as a new allele of Cdh23. This information suggests therefore that NMF112 mutants might be useful for studying neurobiological mechanisms related to Usher syndrome and human deafness.

Standard pathology work-up on one mutant that died while undergoing ECT testing (94 days of age) showed signs of otitis. The bones of the inner ear had degenerated, possibly due to chronic otitis. Standard pathological work-up and serial sections of ears on two additional mutants (38 days of age) showed no abnormalities.

Development
This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment.

Control Information

  Control
   Heterozygote from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Cdh23ahl allele
001137   129P1/ReJ
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
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   Cdh23ahl     (41 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
004819   C57BL/6J-Cdh23v-9J/J
005016   CByJ;B6-Cdh23v-10J/J
000275   V/LeJ
View Strains carrying other alleles of Cdh23     (7 strains)

Phenotype

Phenotype Information

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)
Usher Syndrome, Type ID; USH1D   (CDH23)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Cdh23v-8J/Cdh23v-8J

        C57BL/6J-Cdh23v-8J/J
  • behavior/neurological phenotype
  • circling
    • observable at 4 weeks of age   (MGI Ref ID J:82238)
  • head tilt
    • the head tilt in these mice was described as slight and observable at 4 weeks of age   (MGI Ref ID J:82238)
  • hearing/vestibular/ear phenotype
  • abnormal auditory brainstem response   (MGI Ref ID J:82238)
  • deafness
    • auditory brainstem responses (ABR) tests revealed the mutants to be deaf   (MGI Ref ID J:82238)
View Research Applications

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

Cdh23ahl related

Neurobiology Research
Hearing Defects
      Age related hearing loss

Sensorineural Research
Hearing Defects
      Age related hearing loss

Cdh23v-8J related

Neurobiology Research
Hearing Defects
      deafness, nonsyndromic autosomal recessive 12 (DFNB12)
Neuroscience Mutagenesis Facility Strain
Vestibular Defects

Sensorineural Research
Hearing Defects
Vestibular Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Cdh23v-8J
Allele Name waltzer 8 Jackson
Allele Type Chemically induced (ENU)
Common Name(s) NMF112; Scn8anmf58; neuroscience mutagenesis facility, 112;
Strain of OriginC57BL/6J
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 The mutant nmf112 has a similar phenotype and mapping position to the waltzer mutant. Complementation testing between nmf112 and a known allele at the waltzer locus, Cdh23nmf252, confirmed the allelic relationship. [MGI Ref ID J:87349]
 
Allele Symbol Cdh23ahl
Allele Name age related hearing loss 1
Allele Type QTL
Common Name(s) Cdh23753A; mdfw;
Strain of Originmultiple 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]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Cdh23ahl 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]

Perrin BJ; Strandjord DM; Narayanan P; Henderson DM; Johnson KR; Ervasti JM. 2013. beta-Actin and Fascin-2 Cooperate to Maintain Stereocilia Length. J Neurosci 33(19):8114-21. [PubMed: 23658152]  [MGI Ref ID J:197137]

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]

Cdh23v-8J related

JAX Neuroscience Mutagenesis Facility. 2003. Heritable mouse mutants from JAX NMF ENU Mutagenesis Program MGI Direct Data Submission :.  [MGI Ref ID J:82238]

JAX Neuroscience Mutagenesis Facility. 2004. Heritable mouse mutants from JAX NMF ENU Mutagenesis Program MGI Direct Data Submission :.  [MGI Ref ID J:87349]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2450.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Strains Requiring Specialized Phenotyping.
    At least two untested males and two untested females (two pairs) will be recovered from cryopreserved stocks and will require specialized phenotyping in order to identify animals carrying the mutation of interest. We do not perform the phenotyping for this strain. Upon completion of the cryorecovery process, we will ship you all of the recovered mice (a minimum of two pair, typically eight or more). We cannot guarantee that you will receive or be able to identify animals of the phenotype of interest. Please be advised that a new order and cryorecovery fee will be necessary to recover additional mice, if needed. The typical cryorecovery period required is 10 weeks. However, because recovery efficiency and viability can vary, a second cryorecovery sometimes may be required in order to complete this order, which may extend the time for order completion to 15 to 20 weeks. If this situation occurs, we will notify you of the delay. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information. The Jackson Laboratory 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.
Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3185.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Strains Requiring Specialized Phenotyping.
    At least two untested males and two untested females (two pairs) will be recovered from cryopreserved stocks and will require specialized phenotyping in order to identify animals carrying the mutation of interest. We do not perform the phenotyping for this strain. Upon completion of the cryorecovery process, we will ship you all of the recovered mice (a minimum of two pair, typically eight or more). We cannot guarantee that you will receive or be able to identify animals of the phenotype of interest. Please be advised that a new order and cryorecovery fee will be necessary to recover additional mice, if needed. The typical cryorecovery period required is 10 weeks. However, because recovery efficiency and viability can vary, a second cryorecovery sometimes may be required in order to complete this order, which may extend the time for order completion to 15 to 20 weeks. If this situation occurs, we will notify you of the delay. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information. The Jackson Laboratory 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.
View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   Heterozygote from the colony
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

Important Note

This C57BL/6J background strain is segregating for the age related hearing loss mutation Cdh23ahl, which in the homozygous state causes progressive hearing loss with onset after 10 months of age.

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