Strain Name:

C57BL/6J-Cdh23v-2J/J

Stock Number:

002552

Availability:

Repository- Live

Description

Strain Information

Former Names C57BL/6J-ob-v2J    (Changed: 15-DEC-04 )
Type Coisogenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Mating SystemHeterozygote x Homozygote         (Female x Male)   01-MAR-06
Specieslaboratory mouse
GenerationN18+N3F4 (06-DEC-07)

Appearance
black, circling
Related Genotype: a/a Cdh23v-2J/Cdh23v-2J

black, unaffected
Related Genotype: a/a Cdh23v-2J/+

Description
Mice homozygous for the waltzer 2J spontaneous mutation (Cdh23v-2J) show the circling, head-tossing, deafness, and hyperactivity typical of the circling mutants. Homozygous mutant mice are very similar to the other waltzer mutants (Cdh23v and Cdh23v-J). Most homozygotes are deaf from birth. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Double heterozygotes with shaker-1 (v/+ Myo7ash1/+) are deaf beginning at 3 to 6 months. Double heterozygotes have changes similar to those of the homozygotes in the organ of Corti, stria vascularis, and spiral ganglion, but less severe and with much later onset. Viability and breeding ability are somewhat reduced.

Control Information

  Control
   Heterozygote from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Cdh23
001137   129P1/ReJ
000690   129P3/J
000691   129X1/SvJ
000646   A/J
000647   A/WySnJ
003070   ALR/LtJ
003072   ALS/LtJ
002756   B6.CAST-Cdh23Ahl+/Kjn
004502   B6;AKR-Lxl2/GrsrJ
002432   B6J x B6.C-H2-Kbm1/ByJ-Cdh23v-J/J
001026   BALB/cByJ
000653   BUB/BnJ
005494   C3.129S1(B6)-Grm1rcw/J
000664   C57BL/6J
004764   C57BL/6J-Cdh23v-8J/J
004819   C57BL/6J-Cdh23v-9J/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
005016   CByJ;B6-Cdh23v-10J/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
000275   V/LeJ
View Strains carrying other alleles of Cdh23     (46 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms
Usher Syndrome, Type ID; USH1D - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
View Mammalian Phenotype Terms

Mammalian Phenotype Terms
      assigned by genotype

Cdh23v-2J/Cdh23v-2J

        C57BL/6J-Cdh23v-2J/J
  • hearing/vestibular/ear phenotype
  • abnormal ear morphology (MGI Ref ID J:66698)
    • abnormal cochlear hair cell inter-stereocilial links (MGI Ref ID J:135991)
      • lateral links that connect stereocilia to each other are sparse and frequently disrupted
      • abnormal cochlear hair bundle tip links (MGI Ref ID J:135991)
        • apical links are not present in P5 mice
    • abnormal cochlear outer hair cell morphology (MGI Ref ID J:66698)
      • at E18.5, the outer hair cells (OHCs) appear immature
      • abnormal outer hair cell stereociliary bundle morphology (MGI Ref ID J:66698)
        • at E18.5, the kinocilium is often misplaced from the lateral pole of each cell and the stereocilia, when present, are positioned correctly
        • at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern
        • E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles
        • stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
        • kinocilia are often dissassocaited from the stereociliary clumps
        • absent outer hair cell stereocilia (MGI Ref ID J:66698)
          • in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia
        • decreased outer hair cell stereocilia number (MGI Ref ID J:66698)
          • in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia
    • abnormal inner hair cell stereociliary bundle morphology (MGI Ref ID J:66698)
      • at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape
      • at P4, IHCs remain disorganized
      • E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles
      • stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
      • kinocilia are often dissassocaited from the stereociliary clumps
    • abnormal orientation of cochlear hair cell stereociliary bundles (MGI Ref ID J:135991)
      • kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 14% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice
      • the mean absolute kinociliary deviation is 52 degrees compared to 8 degrees in wild-type mice
    • abnormal vestibular hair cell stereociliary bundle morphology (MGI Ref ID J:66698)
      • at P4, stereocilia appear thick and are often fused and disorganized
  • abnormal ear physiology (MGI Ref ID J:66698)
    • absent brainstem auditory evoked potential (MGI Ref ID J:66698)
      • mice at 3-4 weeks of age do not return normal waveforms at a sound pressure level of 100 dB
    • absent linear vestibular evoked potential (MGI Ref ID J:116914)
      • VESPs are absent at the maximum stimulus intensity used
    • circling (MGI Ref ID J:116914)
  • behavior/neurological phenotype
  • abnormal reflex (MGI Ref ID J:116914)
    • abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior
  • circling (MGI Ref ID J:116914)
  • impaired swimming (MGI Ref ID J:116914)
    • mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface
  • vision/eye phenotype
  • *normal* vision/eye phenotype (MGI Ref ID J:109546)
    • mice do not exhibit signs of retinal degeneration up to 12 months of age and the melanosomes of the retinal pigment epithelium (RPE) are properly localized
    • abnormal eye electrophysiology (MGI Ref ID J:109546)
      • electroretinography analysis of mutant retinas show no difference in amlplitudes of a- and b-waves, but the implicit times of both waves are significantly faster from the earliest detectable points
  • nervous system phenotype
  • abnormal cochlear hair cell inter-stereocilial links (MGI Ref ID J:135991)
    • lateral links that connect stereocilia to each other are sparse and frequently disrupted
    • abnormal cochlear hair bundle tip links (MGI Ref ID J:135991)
      • apical links are not present in P5 mice
  • abnormal cochlear outer hair cell morphology (MGI Ref ID J:66698)
    • at E18.5, the outer hair cells (OHCs) appear immature
    • abnormal outer hair cell stereociliary bundle morphology (MGI Ref ID J:66698)
      • at E18.5, the kinocilium is often misplaced from the lateral pole of each cell and the stereocilia, when present, are positioned correctly
      • at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern
      • E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles
      • stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
      • kinocilia are often dissassocaited from the stereociliary clumps
      • absent outer hair cell stereocilia (MGI Ref ID J:66698)
        • in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia
      • decreased outer hair cell stereocilia number (MGI Ref ID J:66698)
        • in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia
  • abnormal inner hair cell stereociliary bundle morphology (MGI Ref ID J:66698)
    • at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape
    • at P4, IHCs remain disorganized
    • E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles
    • stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
    • kinocilia are often dissassocaited from the stereociliary clumps
  • abnormal orientation of cochlear hair cell stereociliary bundles (MGI Ref ID J:135991)
    • kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 14% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice
    • the mean absolute kinociliary deviation is 52 degrees compared to 8 degrees in wild-type mice
  • abnormal vestibular hair cell stereociliary bundle morphology (MGI Ref ID J:66698)
    • at P4, stereocilia appear thick and are often fused and disorganized

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Cdh23v-2J/Cdh23+

        mixed
  • hearing/vestibular/ear phenotype
  • absent pinna reflex (MGI Ref ID J:108877)
    • percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 30% at 3 to 5 month
  • increased susceptibility to age-related hearing loss (MGI Ref ID J:108877)
    • percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 30% at 3 to 5 month
  • behavior/neurological phenotype
  • absent pinna reflex (MGI Ref ID J:108877)
    • percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 30% at 3 to 5 month
View Research Applications

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

Cdh23v-2J related

Developmental Biology Research
Defects in Cell Adhesion Molecules

Mouse/Human Gene Homologs
Usher syndrome, type ID
      USH1D
deafness, autosomal recessive 12 (DFNB12)

Neurobiology Research
Vestibular and Hearing Defects
      deafness, nonsyndromic autosomal recessive 12 (DFNB12)

Sensorineural Research
Vestibular and Hearing Defects
      deafness, nonsyndromic autosomal recessive 12 (DFNB12)

Genes & Alleles

Gene & Allele Information

 
Allele Symbol Cdh23v-2J
Allele Name waltzer 2 Jackson
Allele Type Spontaneous
Strain of OriginC57BL/6
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; 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 A G-to-A transition at the first nucleotide of intron 32 alters the wild-type donor splice site. RT-PCR analysis demonstrated that aberrant transcripts were produced from this allele, and all of these were predicted to introduce a premature stop codon. [MGI Ref ID J:66698]

Genotyping

Genotyping Information

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

Helpful Links

Genotyping resources and troubleshooting

References

References

Additional References

Bolz H; von Brederlow B; Ramirez A; Bryda EC; Kutsche K; Nothwang HG; Seeliger M; Cabrera Md; Vila MC; Molina OP; Kubisch C; Gal A. 2001. Mutation of CDH23, encoding a new member of the cadherin gene family, causes usher syndrome type 1D Nat Genet 27(1):108-12. [PubMed: 11138009]  [MGI Ref ID J:66740]

Wada T; Wakabayashi Y; Takahashi S; Ushiki T; Kikkawa Y; Yonekawa H; Kominami R. 2001. A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata. Biochem Biophys Res Commun 283(1):113-7. [PubMed: 11322776]  [MGI Ref ID J:69028]

Cdh23v-2J related

Calderon A; Derr A; Stagner BB; Johnson KR; Martin G; Noben-Trauth K. 2006. Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse. Hear Res 221(1-2):44-58. [PubMed: 16962269]  [MGI Ref ID J:113021]

Di Palma F; Holme RH; Bryda EC; Belyantseva IA; Pellegrino R; Kachar B; Steel KP; Noben-Trauth K. 2001. Mutations in cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for usher syndrome type 1D Nat Genet 27(1):103-7. [PubMed: 11138008]  [MGI Ref ID J:66698]

Holme RH; Steel KP. 2002. Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hear Res 169(1-2):13-23. [PubMed: 12121736]  [MGI Ref ID J:108877]

Jones SM; Johnson KR; Yu H; Erway LC; Alagramam KN; Pollak N; Jones TA. 2005. A quantitative survey of gravity receptor function in mutant mouse strains. J Assoc Res Otolaryngol 6(4):297-310. [PubMed: 16235133]  [MGI Ref ID J:116914]

Lefevre G; Michel V; Weil D; Lepelletier L; Bizard E; Wolfrum U; Hardelin JP; Petit C. 2008. A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development 135(8):1427-37. [PubMed: 18339676]  [MGI Ref ID J:135991]

Libby RT; Kitamoto J; Holme RH; Williams DS; Steel KP. 2003. Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. Exp Eye Res 77(6):731-9. [PubMed: 14609561]  [MGI Ref ID J:109546]

Phillips KR; Tong S; Goodyear R; Richardson GP; Cyr JL. 2006. Stereociliary myosin-1c receptors are sensitive to calcium chelation and absent from cadherin 23 mutant mice. J Neurosci 26(42):10777-88. [PubMed: 17050716]  [MGI Ref ID J:113401]

Schwander M; Xiong W; Tokita J; Lelli A; Elledge HM; Kazmierczak P; Sczaniecka A; Kolatkar A; Wiltshire T; Kuhn P; Holt JR; Kachar B; Tarantino L; Muller U. 2009. A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. Proc Natl Acad Sci U S A 106(13):5252-7. [PubMed: 19270079]  [MGI Ref ID J:147149]

Zheng QY; Yan D; Ouyang XM; Du LL; Yu H; Chang B; Johnson KR; Liu XZ. 2005. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum Mol Genet 14(1):103-11. [PubMed: 15537665]  [MGI Ref ID J:95655]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A1

Colony Maintenance

Mating SystemHeterozygote x Homozygote         (Female x Male)   01-MAR-06

Purchasing information

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

Pricing

Pricing for USA, Canada and Mexico shipping destinations View International pricing
Weeks of AgePrice (US dollars $)GenderGenotypes Provided
Individual Mouse $131.70Female or MaleHomozygous for Cdh23v-2J
Pairs /Price (US dollars $)Pair Genotype
$258.90Heterozygous for Cdh23v-2J x Homozygous for Cdh23v-2J

Additional Supply Details

Pricing for International shipping destinations View USA Canada and Mexico pricing
Weeks of AgePrice (US dollars $)GenderGenotypes Provided
Individual Mouse $171.30Female or MaleHomozygous for Cdh23v-2J
Pairs /Price (US dollars $)Pair Genotype
$336.60Heterozygous for Cdh23v-2J x Homozygous for Cdh23v-2J

Additional Supply Details

Supply Details

Standard SupplyRepository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of approximately nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within two business days following order placement.
Supply Notes

Control Information

  Control
   Heterozygote from the colony
 
  Considerations for Choosing Controls
  USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
  International - Control Pricing Information for Genetically Engineered Mutant Strains.

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