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|
|Gene Synonym(s)||DFNA11; DFNB2; Hdb; Hdb; MYOVIIA; MYU7A; Myo7; Myo7; NSRD2; USH1B; headbanger; myosin VII; neuroscience mutagenesis facility, 371; nmf371; nmf371; polka; polka; polka; sh-1; sh1; shaker 1|
|Strain of Origin||B10.D2-H2 |
|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.
|Heterozygous or Homozygous for Myo7a<sh1-7J>|
We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
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