Myo7ash1-7J 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).
A male B10.D2-H2dm1/Eg treated with 30 mg of 1-ethyl-1-nitrosourea (ENU) was bred with a female C57BL/6J-H2bm3/Eg and the offspring were sibling mated. A circling phenotype was identified in subsequent progeny that were homozygous for the H2bm3 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 Name||shaker 1, 7 Jackson|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Myo7a, myosin VIIA|
|Strain of Origin||B10.D2-H2dm1/Eg|
|Molecular Note||Failure to complement with the original shaker 1 mutation proved that this mutation is an allele of Myo7a.|
When using the shaker 1, 7 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #002919 in your Materials and Methods section.