B6.129-Ush1c^tm1Xzl/Kjn

Stock number: 006853
Product name: Ush1 KO
Research areas: Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

Mice homozygous for this knock-out mutation are deaf and exhibit movement anomalies such as circling and head-tossing.

Detailed description

Mice homozygous for the Ush1c^tm1Xzl mutation have circling, head-tossing, and hyperactive behaviors typical of vestibular mutants. Auditory-evoked brainstem assessment shows that homozygotes are completely deaf and scanning electron microscopy shows that the hair cell stereocilia become progressively disorganized with age, with the outer hair cells more affected than the inner hair cells. Although histology at 12 months of age does not reveal any abnormalities, there is a decline in electrotreinogram readings for both rods and cones by 11 months of age. Because the first four exons were replaced by the beta galactosidase reporter cassette, endogenous expression of this gene in phenotypically normal mice can be traced by assessing lacZ expression in heterozygotes.

Development

The Ush1c^tm1Xzl targeted mutation was generated at The Jackson Laboratory via homologous recombination in R1 ES cells, which derive from (129X1/SvJ x 129S1/Sv)F1-Kitl⁺ mice. The chimeric founder was bred with C57BL/6J and the mutation was backcrossed onto C57BL/6J for 11 generations and then intercrossed and maintained primarily by sibling mating heterozygotes to homozygotes.

Allele

Symbol: Ush1c^tm1Xzl
Name: targeted mutation 1, Xue Liu
MGI accession ID: MGI:4437562
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Ush1c
Marker name: USH1 protein network component harmonin
Chromosome: 7
Strain of origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺
Molecular note: The first four exons were replaced with a Beta galactosidase reporter and neomycin resistance genes, successfully eliminating expression of all of the many transcripts produced by this gene, including a, b, and c isoforms.