STOCK Myo7a^sh1-7J/J

Stock number: 002919
Product name: shaker 1, 7 Jackson
Research areas: Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

These mice carry an ENU-induced mutation characterized by circling behavior, head tilt and bob, and deafness.

Detailed description

Myo7a^sh1-7J homozygotes exhibit circling behavior, a slight head tilt and side-to-side head bob. They develop progressive hearing loss, becoming totally deaf by 60 days of age. Heterozygotes are normal. (Samples et al., 2000). Mutations of the human ortholog of Myo7a, MYO7A, have been characterized in pedigrees of patients having Usher syndrome type 1 (USH1), an autosomal recessive disorder characterized by profound deafness, vestibular dysfunction and progressive retinitis pigmentosa (Weil et al., 1995; Weston et al., 1996; Adato et al., 1997; Levy et al., 1997; Liu et al., 1998; Espinos et al., 1998; Cuevas et al., 1998, 1999; Janecke et al., 1999). MYO7A mutations have also been identified in patients with autosomal dominant non-syndromic deafness (Liu et al., 1997) and autosomal recessive isolated deafness (Liu et al., 1997; Weil et al., 1997).

Development

A male B10.D2-H2^dm1/Eg treated with 30 mg of 1-ethyl-1-nitrosourea (ENU) was bred with a female C57BL/6J-H2^bm3/Eg and the offspring were sibling mated. A circling phenotype was identified in subsequent progeny that were homozygous for the H2^bm3 allele. This mutation was shown to be an allele of Myo7a and was backcrossed once to C57BL/6J before being subsequently maintained by sibling mating.

Allele

Symbol: Myo7a^sh1-7J
Name: shaker 1, 7 Jackson
MGI accession ID: MGI:3045593
Generation method: Chemically induced (ENU)
Marker symbol: Myo7a
Marker name: myosin VIIA
Chromosome: 7
Strain of origin: B10.D2-H2^dm1/Eg
Molecular note: Failure to complement with the original shaker 1 mutation proved that this mutation is an allele of Myo7a.