These mice carry an ENU-induced mutation characterized by circling behavior, head tilt and bob, and deafness.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Chemically induced (ENU) | Myo7a | myosin VIIA |
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 |
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Allele Type | Chemically induced (ENU) |
Allele Synonym(s) | |
Gene Symbol and Name | Myo7a, myosin VIIA |
Gene Synonym(s) | |
Strain of Origin | B10.D2-H2dm1/Eg |
Chromosome | 7 |
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.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Homozygous for Myo7a<sh1-7J>, 1 pair minimum |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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