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-Cdh23v-2J/J    (Changed: 24-FEB-10 ) C57BL/6J-ob-v2J    (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation +N1 Generation Definitions

Appearance
black, circling
Related Genotype: a/a Cdh23^v-2J/Cdh23^v-2J

black, unaffected
Related Genotype: a/a Cdh23^v-2J/+

Description
Mice homozygous for the waltzer 2J spontaneous mutation (Cdh23^v-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 (Cdh23^v and Cdh23^v-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/+ Myo7a^sh1/+) 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.

Development
The waltzer 2 Jackson mutation arose spontaneously at The Jackson Laboratory in 1995 in the B6.V-Lep^ob/J strain (stock #000632) when that congenic was at generation N18. This mutation was bred away from the obese-bearing strain by 2 cycles of backcross-intercross mating of ovarian transplanted hosts bred to C57BL/6J. The colony was then maintained by sibling intercrossing heterozygotes to homozygotes for 17 generations before backcrossing a homozygous male to a C57BL/6J female to genetically refresh to the inbred background. The strain was then maintained by sibling intercross for 3 generations before again backcrossing a homozygous male to C57BL/6J and has been maintained by sibling intercross of heterozygous females with homozygous males since then.

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
010615	B6.CBACa-Cdh23CBA/CaJ/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
010614	CBACa.B6-Cdh23ahl/Kjn
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     (48 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Usher Syndrome, Type ID; USH1D

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Deafness, Autosomal Recessive 12; DFNB12   (CDH23)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Cdh23^v-2J/Cdh23⁺

        B6(V)-Cdh23^v-2J/J

• hearing/vestibular/ear phenotype
• increased or absent threshold for auditory brainstem response
  • for some frequencies in mice at 8-10 months of age   (MGI Ref ID J:183898)

Cdh23^v-2J/Cdh23^v-2J

        B6(V)-Cdh23^v-2J/J

• hearing/vestibular/ear phenotype
• abnormal ear morphology   (MGI Ref ID J:66698)
• • abnormal cochlear hair cell inter-stereocilial links morphology
    • lateral links that connect stereocilia to each other are sparse and frequently disrupted   (MGI Ref ID J:135991)
  • • abnormal cochlear hair bundle tip links morphology
      • apical links are not present in P5 mice   (MGI Ref ID J:135991)
  • abnormal cochlear outer hair cell morphology
    • at E18.5, the outer hair cells (OHCs) appear immature   (MGI Ref ID J:66698)
  • • abnormal outer hair cell stereociliary bundle morphology
      • at E18.5, the kinocilium is often misplaced from the lateral pole of each cell and the stereocilia, when present, are positioned correctly   (MGI Ref ID J:66698)
      • at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern   (MGI Ref ID J:66698)
      • E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles   (MGI Ref ID J:135991)
      • stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles   (MGI Ref ID J:135991)
    • • abnormal outer hair cell kinocilium morphology
        • kinocilia are often dissassocaited from the stereociliary clumps   (MGI Ref ID J:135991)
      • absent outer hair cell stereocilia
        • in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia   (MGI Ref ID J:66698)
      • decreased outer hair cell stereocilia number
        • in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia   (MGI Ref ID J:66698)
  • abnormal inner hair cell stereociliary bundle morphology
    • at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape   (MGI Ref ID J:66698)
    • at P4, IHCs remain disorganized   (MGI Ref ID J:66698)
    • E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles   (MGI Ref ID J:135991)
    • stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles   (MGI Ref ID J:135991)
  • • abnormal inner hair cell kinocilium morphology
      • kinocilia are often dissassociated from the stereociliary clumps   (MGI Ref ID J:135991)
  • abnormal orientation of cochlear hair cell stereociliary bundles
    • 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   (MGI Ref ID J:135991)
    • the mean absolute kinociliary deviation is 52 degrees compared to 8 degrees in wild-type mice   (MGI Ref ID J:135991)
  • abnormal vestibular hair cell stereociliary bundle morphology
    • at P4, stereocilia appear thick and are often fused and disorganized   (MGI Ref ID J:66698)
• abnormal ear physiology   (MGI Ref ID J:66698)
• • absent linear vestibular evoked potential
    • VESPs are absent at the maximum stimulus intensity used   (MGI Ref ID J:116914)
  • increased or absent threshold for auditory brainstem response
    • mice at 3-4 weeks of age do not return normal waveforms at a sound pressure level of 100 dB   (MGI Ref ID J:66698)
• behavior/neurological phenotype
• abnormal reflex
  • 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   (MGI Ref ID J:116914)
• circling   (MGI Ref ID J:116914)
• impaired swimming
  • mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface   (MGI Ref ID J:116914)
• vision/eye phenotype
• *normal* vision/eye phenotype
  • 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   (MGI Ref ID J:109546)
• • abnormal eye electrophysiology
    • 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   (MGI Ref ID J:109546)
• nervous system phenotype
• abnormal cochlear hair cell inter-stereocilial links morphology
  • lateral links that connect stereocilia to each other are sparse and frequently disrupted   (MGI Ref ID J:135991)
• • abnormal cochlear hair bundle tip links morphology
    • apical links are not present in P5 mice   (MGI Ref ID J:135991)
• abnormal cochlear outer hair cell morphology
  • at E18.5, the outer hair cells (OHCs) appear immature   (MGI Ref ID J:66698)
• • abnormal outer hair cell stereociliary bundle morphology
    • at E18.5, the kinocilium is often misplaced from the lateral pole of each cell and the stereocilia, when present, are positioned correctly   (MGI Ref ID J:66698)
    • at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern   (MGI Ref ID J:66698)
    • E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles   (MGI Ref ID J:135991)
    • stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles   (MGI Ref ID J:135991)
  • • abnormal outer hair cell kinocilium morphology
      • kinocilia are often dissassocaited from the stereociliary clumps   (MGI Ref ID J:135991)
    • absent outer hair cell stereocilia
      • in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia   (MGI Ref ID J:66698)
    • decreased outer hair cell stereocilia number
      • in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia   (MGI Ref ID J:66698)
• abnormal inner hair cell stereociliary bundle morphology
  • at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape   (MGI Ref ID J:66698)
  • at P4, IHCs remain disorganized   (MGI Ref ID J:66698)
  • E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles   (MGI Ref ID J:135991)
  • stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles   (MGI Ref ID J:135991)
• • abnormal inner hair cell kinocilium morphology
    • kinocilia are often dissassociated from the stereociliary clumps   (MGI Ref ID J:135991)
• abnormal orientation of cochlear hair cell stereociliary bundles
  • 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   (MGI Ref ID J:135991)
  • the mean absolute kinociliary deviation is 52 degrees compared to 8 degrees in wild-type mice   (MGI Ref ID J:135991)
• abnormal vestibular hair cell stereociliary bundle morphology
  • at P4, stereocilia appear thick and are often fused and disorganized   (MGI Ref ID J:66698)

Cdh23^v-2J/Cdh23^v-2J

        involves: C57BL/6J

• hearing/vestibular/ear phenotype
• abnormal cochlear hair cell physiology
  • no FM1-43 loading   (MGI Ref ID J:186316)
• nervous system phenotype
• abnormal cochlear hair cell physiology
  • no FM1-43 loading   (MGI Ref ID J:186316)

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

Cdh23^v-2J/Cdh23⁺

        mixed

• hearing/vestibular/ear phenotype
• increased susceptibility to age-related hearing loss
  • 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   (MGI Ref ID J:108877)
• behavior/neurological phenotype
• absent pinna reflex
  • 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   (MGI Ref ID J:108877)

View Research Applications

Research Applications

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

Cdh23^v-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
Hearing Defects
      deafness, nonsyndromic autosomal recessive 12 (DFNB12)
Vestibular Defects

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

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Cdh23v-2J
Allele Name		waltzer 2 Jackson
Allele Type		Spontaneous
Common Name(s)		Cdh23v-2J;
Strain of Origin		C57BL/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		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

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

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]

Cdh23^v-2J related

Alagramam KN; Goodyear RJ; Geng R; Furness DN; van Aken AF; Marcotti W; Kros CJ; Richardson GP. 2011. Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in Mammalian sensory hair cells. PLoS One 6(4):e19183. [PubMed: 21532990]  [MGI Ref ID J:172400]

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]

Geng R; Melki S; Chen DH; Tian G; Furness DN; Oshima-Takago T; Neef J; Moser T; Askew C; Horwitz G; Holt JR; Imanishi Y; Alagramam KN. 2012. The Mechanosensory Structure of the Hair Cell Requires Clarin-1, a Protein Encoded by Usher Syndrome III Causative Gene. J Neurosci 32(28):9485-9498. [PubMed: 22787034]  [MGI Ref ID J:186316]

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]

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]

Kim HJ; Jackson T; Noben-Trauth K. 2003. Genetic analyses of the mouse deafness mutations varitint-waddler (va) and jerker (espnje). J Assoc Res Otolaryngol 4(1):83-90. [PubMed: 12209292]  [MGI Ref ID J:78812]

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]

Liu S; Li S; Zhu H; Cheng S; Zheng QY. 2012. A mutation in the cdh23 gene causes age-related hearing loss in Cdh23(nmf308/nmf308) mice. Gene 499(2):309-17. [PubMed: 22326520]  [MGI Ref ID J:183808]

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]

Verpy E; Leibovici M; Michalski N; Goodyear RJ; Houdon C; Weil D; Richardson GP; Petit C. 2011. Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane. J Comp Neurol 519(2):194-210. [PubMed: 21165971]  [MGI Ref ID J:186025]

Vu AA; Nadaraja GS; Huth ME; Luk L; Kim J; Chai R; Ricci AJ; Cheng AG. 2013. Integrity and regeneration of mechanotransduction machinery regulate aminoglycoside entry and sensory cell death. PLoS One 8(1):e54794. [PubMed: 23359017]  [MGI Ref ID J:195927]

Xiong W; Grillet N; Elledge HM; Wagner TF; Zhao B; Johnson KR; Kazmierczak P; Muller U. 2012. TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell 151(6):1283-95. [PubMed: 23217710]  [MGI Ref ID J:193334]

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]

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

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

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.

Control Information

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

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Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

See Terms of Use tab for General Terms and Conditions

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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