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Former Names B6C3Fe-a/a-Pcdh15av-2J/+ (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Generation N7p 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.
Strains carrying a allele
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
View Strains carrying other alleles of a (67 strains)
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)
- circling (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
| Allele Symbol | Pcdh15av-2J | ||
|---|---|---|---|
| Allele Name | Ames waltzer 2 Jackson | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | av2J; | ||
| Strain of Origin | linkage 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 | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Optimizing PCR Protocols
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 relatedAlagramam 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]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
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*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $1900.00
| Pricing for International shipping destinations |
|
*Price(s) in US dollars ($)
Weeks of Age Price* Gender Cryorecovery Fee $2470.00
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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