Strain Name:

C57BL/6J-Pcdh15av-3J/J

Stock Number:

002072

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Availability:

Cryopreserved - Ready for recovery

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 Coisogenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse

Appearance
black, circling
Related Genotype: a/a Pcdh15av-3J/Pcdh15av-3J

black, unaffected
Related Genotype: a/a Pcdh15av-3J/+

Description
There have been several remutations to Ames waltzer (av) have occurred in stocks at The Jackson Laboratory. All mice homozygous for these remutations show the characteristic head-tossing, circling, and deafness characteristic of Ames waltzer. Ames wa ltzer 2J homozygous mutant mice (av2J/av2J) are more severely afflicted than mice homozygous for the other Jackson (J) remutations. av2J/av2J homozygotes become disoriented and sink in swim tests; Ames waltzer 3J homozygotes (av3J/av3J), like Ames waltzer-J (avJ/avJ), swim with difficulty and circle afloat. In the membranous labyrinth the fluid spaces in the Organ of Corti fail to develop. Later, hair cells and spiral ganglion cells degenerate.

Development
Ames waltzer 3 Jackson (Pcdh15av-3J) arose spontaneously on strain C57BL/6J when it was at F175 at the Jackson Laboratory in the early 1990's. It was maintained on that strain and was cryopreserved in 1993 by mating homozygous males at F175+1N2F1 to C57BL/6J females.

Control Information

  Control
   Heterozygote from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Pcdh15
000517   B6.BKS-Pcdh15av-J/J
002078   B6C3Fe a/a-Pcdh15av-2J/J
004156   C57BL/6J-Pcdh15av-5J/J
View Strains carrying other alleles of Pcdh15     (3 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 IF; USH1F
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Deafness, Autosomal Recessive 23; DFNB23   (PCDH15)
Usher Syndrome, Type ID; USH1D   (PCDH15)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Pcdh15av-3J/Pcdh15+

        C57BL/6J-Pcdh15av-3J/J
  • hearing/vestibular/ear phenotype
  • increased or absent threshold for auditory brainstem response
    • elevated thresholds for some frequencies in mice at 8-10 months of age   (MGI Ref ID J:183898)

Pcdh15av-3J/Pcdh15av-3J

        C57BL/6J-Pcdh15av-3J/J
  • hearing/vestibular/ear phenotype
  • *normal* hearing/vestibular/ear phenotype
    • normal endocochlear potential   (MGI Ref ID J:106625)
    • histochemistry of the organ of Corti shows the centrosomes in the normal position   (MGI Ref ID J:106625)
    • cytocauds are not observed   (MGI Ref ID J:106625)
    • abnormal cochlear hair cell morphology
      • diminished amounts of actin in the stereocilia and cuticular plate   (MGI Ref ID J:106625)
      • 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   (MGI Ref ID J:106625)
        • abnormal outer hair cell stereociliary bundle morphology   (MGI Ref ID J:106625)
          • 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 dissassociated from the stereociliary clumps   (MGI Ref ID J:135991)
      • abnormal inner hair cell stereociliary bundle morphology   (MGI Ref ID J:106625)
        • 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 26% 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 38 degrees compared to 8 degrees in wild-type mice   (MGI Ref ID J:135991)
      • short cochlear hair cell stereocilia   (MGI Ref ID J:106625)
    • 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
      • as early as 9 days of age there is no ABR response even at 20 kHz   (MGI Ref ID J:106625)
  • 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:106625)
  • impaired swimming   (MGI Ref ID J:106625)
    • 3 of 4 mice tested exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface   (MGI Ref ID J:116914)
  • nervous system phenotype
  • abnormal cochlear hair cell morphology
    • diminished amounts of actin in the stereocilia and cuticular plate   (MGI Ref ID J:106625)
    • 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   (MGI Ref ID J:106625)
      • abnormal outer hair cell stereociliary bundle morphology   (MGI Ref ID J:106625)
        • 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 dissassociated from the stereociliary clumps   (MGI Ref ID J:135991)
    • abnormal inner hair cell stereociliary bundle morphology   (MGI Ref ID J:106625)
      • 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 26% 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 38 degrees compared to 8 degrees in wild-type mice   (MGI Ref ID J:135991)
    • short cochlear hair cell stereocilia   (MGI Ref ID J:106625)
  • cellular phenotype
  • abnormal inner hair cell kinocilium morphology
    • kinocilia are often dissassociated from the stereociliary clumps   (MGI Ref ID J:135991)
  • abnormal outer hair cell kinocilium morphology
    • kinocilia are often dissassociated from the stereociliary clumps   (MGI Ref ID J:135991)
View Research Applications

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

Pcdh15av-3J related

Neurobiology Research
Hearing Defects

Sensorineural Research
Hearing Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Pcdh15av-3J
Allele Name Ames waltzer 3 Jackson
Allele Type Spontaneous
Common Name(s) Pcdh15av-3J; av3J;
Strain of OriginC57BL/6J
Gene Symbol and Name Pcdh15, protocadherin 15
Chromosome 10
Gene Common Name(s) Ames Waltzer; BB078305; CDHR15; DFNB23; ENSMUSG00000046980; Gm9815; USH1F; av; expressed sequence BB078305; neuroscience mutagenesis center, 19; neuroscience mutagenesis facility, 19; nmf19; predicted gene 9815; predicted gene, ENSMUSG00000046980;
General Note These homozygotes, like Pcdh15av-J homozygotes, can swim, though with difficulty. They tend to circle while afloat (J:28688).
Molecular Note An insertion of a single A nucleotide after position 4521 in the coding region results in a frameshift and a premature stop codon. Any encoded protein is predicted to lack a cytoplasmic domain. [MGI Ref ID J:66738]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Alagramam KN; Murcia CL; Kwon HY; Pawlowski KS; Wright CG; Woychik RP. 2001. The mouse ames waltzer hearing-loss mutant is caused by mutation of pcdh15, a novel protocadherin gene Nat Genet 27(1):99-102. [PubMed: 11138007]  [MGI Ref ID J:66738]

Hampton LL; Wright CG; Alagramam KN; Battey JF; Noben-Trauth K. 2003. A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15. Hear Res 180(1-2):67-75. [PubMed: 12782354]  [MGI Ref ID J:84779]

Osako S; Hilding DA. 1971. Electron microscopic studies of capillary permeability in normal and ames waltzer deaf mice. Acta Otolaryngol (Stockh) 71(5):365-76. [PubMed: 5093631]  [MGI Ref ID J:5225]

Pcdh15av-3J 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]

Alagramam KN; Murcia CL; Kwon HY; Pawlowski KS; Wright CG; Woychik RP. 2001. The mouse ames waltzer hearing-loss mutant is caused by mutation of pcdh15, a novel protocadherin gene Nat Genet 27(1):99-102. [PubMed: 11138007]  [MGI Ref ID J:66738]

Alagramam KN; Stahl JS; Jones SM; Pawlowski KS; Wright CG. 2005. Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1F. J Assoc Res Otolaryngol 6(2):106-18. [PubMed: 15952048]  [MGI Ref ID J:148677]

Ball SL; Bardenstein D; Alagramam KN. 2003. Assessment of retinal structure and function in Ames waltzer mice. Invest Ophthalmol Vis Sci 44(9):3986-92. [PubMed: 12939319]  [MGI Ref ID J:85211]

Caberlotto E; Michel V; Foucher I; Bahloul A; Goodyear RJ; Pepermans E; Michalski N; Perfettini I; Alegria-Prevot O; Chardenoux S; Do Cruzeiro M; Hardelin JP; Richardson GP; Avan P; Weil D; Petit C. 2011. Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. Proc Natl Acad Sci U S A 108(14):5825-30. [PubMed: 21436032]  [MGI Ref ID J:171218]

Chacon-Heszele MF; Ren D; Reynolds AB; Chi F; Chen P. 2012. Regulation of cochlear convergent extension by the vertebrate planar cell polarity pathway is dependent on p120-catenin. Development 139(5):968-78. [PubMed: 22318628]  [MGI Ref ID J:182748]

Chance MR; Chang J; Liu S; Gokulrangan G; Chen DH; Lindsay A; Geng R; Zheng QY; Alagramam K. 2010. Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F. Hum Mol Genet 19(8):1515-27. [PubMed: 20097680]  [MGI Ref ID J:158344]

Cook S; Lane P. 1993. Re-mutation to Ames waltzer Mouse Genome 91:554.  [MGI Ref ID J:28688]

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]

Pawlowski KS; Kikkawa YS; Wright CG; Alagramam KN. 2006. Progression of inner ear pathology in Ames waltzer mice and the role of protocadherin 15 in hair cell development. J Assoc Res Otolaryngol 7(2):83-94. [PubMed: 16408167]  [MGI Ref ID J:148675]

Raphael Y; Kobayashi KN; Dootz GA; Beyer LA; Dolan DF; Burmeister M. 2001. Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice. Hear Res 151(1-2):237-249. [PubMed: 11124469]  [MGI Ref ID J:106625]

Senften M; Schwander M; Kazmierczak P; Lillo C; Shin JB; Hasson T; Geleoc GS; Gillespie PG; Williams D; Holt JR; Muller U. 2006. Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J Neurosci 26(7):2060-71. [PubMed: 16481439]  [MGI Ref ID J:105750]

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]

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]

Zheng QY; Yu H; Washington JL 3rd; Kisley LB; Kikkawa YS; Pawlowski KS; Wright CG; Alagramam KN. 2006. A new spontaneous mutation in the mouse protocadherin 15 gene. Hear Res 219(1-2):110-20. [PubMed: 16887306]  [MGI Ref ID J:111661]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

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

Colony Maintenance

Breeding & Husbandryfemale homozygotes do breed successfully, but are not part of the optimal breeding scheme.

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* $3300.00
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 - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. 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.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4290.00
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 - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. 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.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

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.

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant Resource.

Control Information

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

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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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