B6J x B6.C-H2-K^bm1/ByJ-Cdh23^v-J/J

Stock number: 002432
Product name: waltzer Jackson
Research areas: Developmental Biology Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

These mice carry a spontaneous re-mutation at the Cdh23 locus characterized by circling, head-tossing, deafness, and hyperactivity typical of circling mutants.

Detailed description

Mice homozygous for the waltzer Jackson spontaneous mutation (Cdh23^v-J) exhibit the circling, head-tossing, deafness, and hyperactivity typical of circling mutants. Homozygous mutant mice are very similar to other waltzer mutants (Cdh23^v and Cdh23^v-2J). 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 (Cdh23^v/+ Myo7a^sh1/+) become deaf by 3 to 6 months of age. Double heterozygotes show degeneration in the organ of Corti, stria vascularis, and spiral ganglion similar to that of Cdh23^v-J homozygotes, but less severe and with much later onset. Viability and breeding ability are somewhat reduced.

Allele

Symbol: Cdh23^v-J
Name: waltzer Jackson
MGI accession ID: MGI:1856412
Generation method: Spontaneous
Synonyms: Bob; bobby; nm1971
Marker symbol: Cdh23
Marker name: cadherin 23 (otocadherin)
Marker synonyms: 4930542A03Rik; ahl; bob; CDHR23; mdfw; nmf112; nmf181; nmf252; PITA5; sals; USH1D
Chromosome: 10
Strain of origin: B6.C-H2-K^bm1/ByJ
Molecular note: A single G residue at coding nucleotide 3505 was deleted in this allele. This mutation causes a translational frame shift and premature termination of the encoded protein.

Allele

Symbol: H2-K^bm1
Name: b haplotype mutation 1
MGI accession ID: MGI:3618114
Generation method: Spontaneous
Synonyms: bm1; H(z1); H-2^ba; H-2^bm1; K^bm1
Marker symbol: H2-K
Marker name: histocompatibility 2, K region
Chromosome: 17
Strain of origin: C57BL/6By
Molecular note: The bm1 mutation contains 7 nucleotide differences resulting in amino acid substitutions at codon 152 (glutamate to alanine), codon 155 (arginine to tyrosine) and codon 156 (leucine to tyrosine).
General note: Genbank ID for this allele: X56624