B6.A-Ush1g^js/J

Stock number: 000783
Product name: Jackson shaker
Research areas: Neurobiology Research, Sensorineural Research

Description

These mice carry a spontaneous mutation at the Ush1g locus characterized by deafness and abnormal movement.

Detailed description

Mice homozygous for the Ush1g^js allele are deaf, circle, and toss their heads from side to side. They are viable and fertile but due to their circling gait females may trample their pups and thus should not be used for breeding. No auditory brain response was detected from homozygotes at 14, 21, and 30 days of age. At 10-14 days of age the stereocilia of the outer and macular hair cells are disarrayed or missing although no abnormal phenotype is evident in inner hair cells, or in the gross anatomy of the cochlea or vestibule. The steriocilia degeneration in outer hair cells continues but the inner hair cells remain normal at 30-47 days of age. (Dickie and Deol, 1967; Kitamura et al., 1992.)

Development

The js allele of Ush1g arose spontaneously on the A/J background at The Jackson Laboratory in 1963. It was backcrossed to C57BL/6J for 17 generations, then in 1982 embryos were generated and frozen from C57BL/6J females bred with N17 heterozygous males. (Dickie and Deol, 1967.)

Allele

Symbol: Ush1g^js
Name: Jackson shaker
MGI accession ID: MGI:1856575
Generation method: Spontaneous
Synonyms: js
Marker symbol: Ush1g
Marker name: USH1 protein network component sans
Marker synonyms: ANKS4A; js; SANS
Chromosome: 11
Strain of origin: A/J
Molecular note: The mutation was identified as a single bp insertion of a guanine within a stretch of six guanines at nucleotide position 675-80. The insertion causes a frame shift mutation that results in a truncated protein at amino acid position 245. The resultant protein lacks the C-terminal SAM domain.