Strain Name:

B6C3Fe a/a-Pcdh15av-2J/J

Stock Number:

002078

Availability:

Repository-Cryopreserved

Description

Strain Information

Former Names B6C3Fe-a/a-Pcdh15av-2J/+    (Changed: 15-DEC-04 )
Type Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered Mutant Mice.
Specieslaboratory mouse
GenerationN7p

Description
There have been several remutations to Ames waltzer (av) that 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 waltzer 2 Jackson 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 3 Jackson homozygotes (av3J/av3J), like Ames waltzer Jackson homozygotes (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 2 Jackson (Pcdh15av-2J) arose in a linkage cross between B6C3Fe-a/a and strain CHMU/Le in 1989. CHMU/Le (stock #000293) is a balanced recessive stock with congenital hydrocephalus (Foxc1ch) on one Chromosome 13 and muted (Mutedmu) on the other. The mutation av-2J, on Chromosome 10, was backcrossed to the hybrid B6C3Fe-a/a for 8 generations. Embryos were generated for cryopreservation in 1993 using heterozygous females at N7-N8 and homozygous males at N6-N8.

Related Strains

Strains carrying   a allele
003879   B10;TFLe-a/a T tf/+ tf/J
001538   B6 x B6C3Sn a/A-T(1;9)27H/J
000916   B6 x B6C3Sn a/A-T(5;12)31H/J
000602   B6 x B6C3Sn a/A-T(8;16)17H/J
000618   B6 x FSB/GnEi a/a Ctslfs/J
000577   B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
000601   B6 x STOCK a/a T(7;18)50H/J
000592   B6 x STOCK T(2;4)13H a/J
000001   B6.C3 A/a Mgrn1md/J
000785   B6;D2-a Es1e/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
002807   B6C3Fe a/a-Meox2fla/J
000224   B6C3Fe a/a-Scyl1mdf/J
001037   B6C3Fe a/a-Agtpbp1pcd/J
000221   B6C3Fe a/a-Alx4lst-J/J
002062   B6C3Fe a/a-Atp7aMo-8J/J
001756   B6C3Fe a/a-Cacng2stg/J
001815   B6C3Fe a/a-Col1a2oim/J
000231   B6C3Fe a/a-Csf1op/J
000209   B6C3Fe a/a-Dh/J
000211   B6C3Fe a/a-Dstdt-J/J
000210   B6C3Fe a/a-Edardl-J/J
000207   B6C3Fe a/a-Edaraddcr/J
000182   B6C3Fe a/a-Eef1a2wst/J
001278   B6C3Fe a/a-Glra1spd/J
000241   B6C3Fe a/a-Glrbspa/J
002875   B6C3Fe a/a-Hoxd13spdh/J
000304   B6C3Fe a/a-Krt71Ca Scn8amed-J/J
000226   B6C3Fe a/a-Largemyd/J
000636   B6C3Fe a/a-Lmx1adr-J/J
001280   B6C3Fe a/a-Lse/J
001573   B6C3Fe a/a-MitfMi/J
001035   B6C3Fe a/a-Napahyh/J
000181   B6C3Fe a/a-Otogtwt/J
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
000205   B6C3Fe a/a-Papss2bm/J
000246   B6C3Fe a/a-Pitpnavb/J
001430   B6C3Fe a/a-Ptch1mes/J
000506   B6C3Fe a/a-Qkqk/J
000235   B6C3Fe a/a-Relnrl/J
000237   B6C3Fe a/a-Rorasg/J
000290   B6C3Fe a/a-Sox10Dom/J
000230   B6C3Fe a/a-Tcirg1oc/J
003612   B6C3Fe a/a-Trak1hyrt/J
001512   B6C3Fe a/a-Ttnmdm/J
001607   B6C3Fe a/a-Unc5crcm/J
000005   B6C3Fe a/a-Wc/J
000243   B6C3Fe a/a-Wnt1sw/J
000248   B6C3Fe a/a-Xpl/J
001750   B6C3Fe a/a-XsJ/J
000624   B6C3Fe a/a-anx/J
003020   B6C3Fe a/a-dep/J
002018   B6C3Fe a/a-din/J
002339   B6C3Fe a/a-nma/J
000240   B6C3Fe a/a-soc/J
000063   B6C3Fe a/a-sy/J
001055   B6C3Fe a/a-tip/J
000245   B6C3Fe a/a-tn/J
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
001022   B6C3FeF1/J a/a
000971   B6EiC3 a/A-Och/J
000551   B6EiC3 a/A-Tbx15de-H/J
006450   B6EiC3 a/A-Vss/J
000557   B6EiC3-+ a/LnpUl A/J
000503   B6EiC3Sn a/A-Gy/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
000391   B6EiC3Sn a/A-Pax6Sey-Dey/J
001924   B6EiC3Sn a/A-Ts(1716)65Dn
001923   B6EiC3Sn a/A-Ts(417)2Lws Tim/J
000225   C3FeLe.B6 a/a-Ptpn6me/J
008425   C3FeLe.B6-a Trl/J
000198   C3FeLe.B6-a/J
000291   C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001886   C3HeB/FeJLe a/a-gnd/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/J
000284   CWD/LeJ
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
000265   MY/HuLeJ
000308   SSL/LeJ
000994   STOCK a Myo5ad Mregdsu/J
000064   STOCK a Tyrp1b Sisi/J
002238   STOCK a Tyrp1b shmy/J
001433   STOCK a skt/J
000579   STOCK a tp/J
000319   STOCK a us/J
002648   STOCK a/a Cln6nclf/J
000317   STOCK a/a Egfrwa2/J
000302   STOCK a/a MitfMi-wh +/+ Itpr1opt/J
000286   STOCK a/a Myo5ad fd/+ +/J
000206   STOCK a/a Tyrc-h/J
001432   STOCK a/a Tyrp1b sks/Tyrp1b +/J
000281   STOCK a/a ma ft/ma ft/J
000312   STOCK stb + a/+ Fignfi a/J
000596   STOCK T(2;11)30H/+ x AEJ-a Gdf5bp-H/J or A/J-a Gdf5bp-J/J
000970   STOCK T(2;16)28H A/T(2;16)28H a/J
000590   STOCK T(2;4)1Sn a/J
000594   STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
000623   TR/DiEiJ
View Strains carrying   a     (103 strains)

Strains carrying other alleles of Pcdh15
000517   B6.BKS-Pcdh15av-J/J
002072   C57BL/6J-Pcdh15av-3J/J
004156   C57BL/6J-Pcdh15av-5J/J
View Strains carrying other alleles of Pcdh15     (3 strains)

Strains carrying other alleles of a
003301   (C57BL/6J x C3H-Eya1bor)F1/J
000251   AEJ.Cg-ae +/a Gdf5bp-H/J
000202   AEJ/Gn-bd/J
000199   AEJ/GnLeJ
000427   B10.CE-H13b Aw/(30NX)SnJ
000420   B10.LP-H13b Aw/Sn
000477   B10.PA-Pldnpa H3e at/SnJ
000419   B10.UW-H3b we Pax1un at/SnJ
000593   B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J
000502   B6 x B6CBCa Aw-J/A-Myo5aflr Gnb5flr/J
000599   B6 x B6CBCa Aw-J/A-T(5;13)264Ca KitW-v/J
002083   B6 x B6EiC3 a/A-T(7;16)235Dn/J
000507   B6 x B6EiC3 a/A-Otcspf/J
002016   B6(Cg)-Aw-J EdaTa-6J Chr YB6-Sxr/EiJ
000552   B6-Aw-J-EdaTa-6J.Cg-Sxr
001730   B6-Aw-J-EdaTa-6J.Cg-Sxrb Hya-/J
000841   B6-Aw-J.CBy-EdaTa-By/J
001809   B6-Aw-J.Cg-EdaTa-6J +/+ ArTfm/J
000600   B6-Gpi1b x B6CBCa Aw-J/A-T(7;15)9H Gpi1a/J
000769   B6.C/(HZ18)By-at-44J/J
000203   B6.C3-Aiy/a/J
001572   B6.C3-am-J/J
000017   B6.C3Fe-Avy/J
000628   B6.CE-A Amy1b Amy2b/J
005505   B6.Cg-Ay Slc7a11sut/LmLlp
000021   B6.Cg-Ay/J
100409   B6129PF1/J-Aw-J/Aw
004200   B6;CBACa Aw-J/A-Npr2cn-2J/J
000505   B6C3 Aw-J/A-Mutedmu/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
000065   B6C3Fe a/a-we Pax1un at/J
000314   B6CBACa Aw-J/A-EdaTa/J-XO
000501   B6CBACa Aw-J/A-Aifm1Hq/J
001046   B6CBACa Aw-J/A-Grid2Lc/J
000500   B6CBACa Aw-J/A-Gs/J
002703   B6CBACa Aw-J/A-Hydinhy3/J
000247   B6CBACa Aw-J/A-Kcnj6wv/J
000287   B6CBACa Aw-J/A-Plp1jp EdaTa/J
000515   B6CBACa Aw-J/A-SfnEr/J
000242   B6CBACa Aw-J/A-spc/J
000288   B6CBACa Aw-J/A-we a Mafbkr/J
001201   B6CBACaF1/J-Aw-J/A
001752   B6CBCa Aw-J/A-T(7;15)9H/J
006450   B6EiC3 a/A-Vss/J
000557   B6EiC3-+ a/LnpUl A/J
000504   B6EiC3Sn a/A-Cacnb4lh/J
000553   B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
001923   B6EiC3Sn a/A-Ts(417)2Lws Tim/J
000200   C3FeB6 A/Aw-J-Ankank/J
000638   C3FeB6 A/Aw-J-Spnb4qv-J/J
001203   C3FeB6F1/J A/Aw-J
001272   C3H/HeSnJ-Ahvy/J
000099   C3HeB/FeJ-Avy/J
000338   C57BL/6J Aw-J-EdaTa-6J/J
000258   C57BL/6J-Ai/a/J
000774   C57BL/6J-Asy/a/J
000569   C57BL/6J-Aw-J-EdaTa +/+ ArTfm/J
000051   C57BL/6J-Aw-J/J
000055   C57BL/6J-at-33J/J
000070   C57BL/6J-atd/J
002468   KK.Cg-Ay/J
000262   LS/LeJ
000283   LT.CAST-A/J
001759   STOCK A Tyrc Sha/J
001427   STOCK Aw us/J
View Strains carrying other alleles of a     (67 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms
      assigned by genotype

Pcdh15av-2J/Pcdh15av-2J

        B6C3Fe a/a-Pcdh15av-2J/J
  • hearing/vestibular/ear phenotype
  • *normal* hearing/vestibular/ear phenotype (MGI Ref ID J:106625)
    • normal endocochlear potential
    • histochemistry of the organ of Corti shows the centrosomes in the normal position
    • cytocauds are not observed
    • abnormal cochlear hair cell morphology (MGI Ref ID J:106625)
      • diminished amounts of actin in the stereocilia and cuticular plate, the outer perimeter of hair cells has a distorted shape
      • the inner hair cells are more severely affected than the outer hair cells
      • abnormal cochlear hair cell stereociliary bundle morphology (MGI Ref ID J:106625)
        • abnormal inner hair cell stereociliary bundle morphology (MGI Ref ID J:106625)
          • stereocilia bundles on inner hair cells can be nearly invisible or tall and disorganized
        • abnormal outer hair cell stereociliary bundle morphology (MGI Ref ID J:106625)
          • abnormal orientation of outer hair cell stereociliary bundles (MGI Ref ID J:106625)
            • some outer hair cells have stereocilia bundles that are rotated 90 degrees away from normal orientation
        • short cochlear hair cell stereocilia (MGI Ref ID J:106625)
          • short and distorted stereocilia bundles
      • abnormal cochlear outer hair cell morphology (MGI Ref ID J:106625)
        • outer hair cells are extremely distorted, a more severe phenotype than in av-J homozygotes
        • abnormal outer hair cell stereociliary bundle morphology (MGI Ref ID J:106625)
          • abnormal orientation of outer hair cell stereociliary bundles (MGI Ref ID J:106625)
            • some outer hair cells have stereocilia bundles that are rotated 90 degrees away from normal orientation
      • cochlear hair cell degeneration (MGI Ref ID J:106625)
        • near complete loss of inner and outer hair cells by 60 days of age
    • abnormal supporting cell morphology (MGI Ref ID J:106625)
      • diminished actin in the supporting cells, particularly the pillar and Hensen cells
      • abnormal Hensen cell morphology (MGI Ref ID J:106625)
      • abnormal pillar cell morphology (MGI Ref ID J:106625)
    • absent brainstem auditory evoked potential (MGI Ref ID J:106625)
      • as early as 9 days of age there is no ABR response even at 20 kHz
    • absent linear vestibular evoked potential (MGI Ref ID J:116914)
      • variable penetrance; in 2 of 4 mice tesed, VESPs are absent at the maximum stimulus intensity used
      • in remaining two mice tesed, responses are measurable, but abnormal
    • circling (MGI Ref ID J:106625)
  • behavior/neurological phenotype
  • ataxia (MGI Ref ID J:106625)
    • between 2 and 6 weeks of age homozygotes have an ataxic gait, tend to fall over, and have difficulty righting themselves, although this neurologic phenotype diminishes as they reach adulthood. This phenotype is not found in the av-J or av-3J homozygotes, indicating a greater severity of phenotype in the av-2J mutant
  • impaired balance (MGI Ref ID J:106625)
  • impaired righting response (MGI Ref ID J:106625)
  • impaired swimming (MGI Ref ID J:106625)
    • mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface
  • nervous system phenotype
  • abnormal cochlear hair cell morphology (MGI Ref ID J:106625)
    • diminished amounts of actin in the stereocilia and cuticular plate, the outer perimeter of hair cells has a distorted shape
    • the inner hair cells are more severely affected than the outer hair cells
    • abnormal cochlear hair cell stereociliary bundle morphology (MGI Ref ID J:106625)
      • abnormal inner hair cell stereociliary bundle morphology (MGI Ref ID J:106625)
        • stereocilia bundles on inner hair cells can be nearly invisible or tall and disorganized
      • abnormal outer hair cell stereociliary bundle morphology (MGI Ref ID J:106625)
        • abnormal orientation of outer hair cell stereociliary bundles (MGI Ref ID J:106625)
          • some outer hair cells have stereocilia bundles that are rotated 90 degrees away from normal orientation
      • short cochlear hair cell stereocilia (MGI Ref ID J:106625)
        • short and distorted stereocilia bundles
    • abnormal cochlear outer hair cell morphology (MGI Ref ID J:106625)
      • outer hair cells are extremely distorted, a more severe phenotype than in av-J homozygotes
      • abnormal outer hair cell stereociliary bundle morphology (MGI Ref ID J:106625)
        • abnormal orientation of outer hair cell stereociliary bundles (MGI Ref ID J:106625)
          • some outer hair cells have stereocilia bundles that are rotated 90 degrees away from normal orientation
    • cochlear hair cell degeneration (MGI Ref ID J:106625)
      • near complete loss of inner and outer hair cells by 60 days of age
View Research Applications

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

Pcdh15av-2J related

Neurobiology Research
Vestibular and Hearing Defects

Sensorineural Research
Vestibular and Hearing Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol Pcdh15av-2J
Allele Name Ames waltzer 2 Jackson
Allele Type Spontaneous
Common Name(s) av2J;
Strain of Originlinkage stock
Gene Symbol and Name Pcdh15, protocadherin 15
Chromosome 10
Gene Common Name(s) Ames Waltzer; BB078305; DFNB23; DKFZp667A1711; USH1F; av; expressed sequence BB078305; neuroscience mutagenesis center, 19; neuroscience mutagenesis facility, 19; nmf19;
General Note Homozygotes for Pcdh15av-2J are more severely afflicted than those for other J remutations. Pcdh15av-2J homozygotes become disoriented and sink in swim tests (J:28688).
Molecular Note A deletion of 81 bp in the coding sequence near the 5' end of the gene is predicted to eliminate 27 amino acids of the extracellular domain of the encoded protein. [MGI Ref ID J:66738]
 
Allele Symbol a
Allele Name nonagouti
Allele Type Spontaneous

Genotyping

Genotyping Information

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

Helpful Links

Optimizing PCR Protocols

References

References

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]

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-2J related

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]

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]

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]

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]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

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*Gender
Cryorecovery Fee $1900.00
*Price(s) in US dollars ($)

Additional Supply Details

Pricing for International shipping destinations View USA Canada and Mexico pricing
Weeks of AgePrice*Gender
Cryorecovery Fee $2470.00
*Price(s) in US dollars ($)

Additional Supply Details

Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes
  • Cryorecovery - Standard.
    The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that 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. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
    One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845.

  • Genomic DNA is available for this strain from the Mouse DNA Resource.

General Terms and Conditions


See Terms of Use


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General Terms and Conditions


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