Myo7ash1-8J homozygous mice circle and bob their heads; heterozygotes are behaviorally normal. Homozygotes of both sexes are viable and fertile (Samples 2000). The hearing of Myo7ash1-8J mutants has not been examined. However, other Myo7a mutations, whose behavioral phenotypes are virtually identical to that of Myo7ash1-J, are associated with deafness.
Mutations in 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).
The Myo7ash1-8J mutation occurred spontaneously on B6,SJL-TgN(c177lacZ)226Bri while the latter was being bred in the Importation facility at The Jackson Laboratory. Myo7ash1-8J was transferred to the C57BL/6J background by seven rounds of backcross-intercross breeding; homozygous males produced by mating heterozygous sibs were bred to C57BL/6J females to yield the next generation of heterozygotes. The colony was genotyped for TgN(c177lacZ)226Bri in March, 2000 and verified free of the transgene.
|Allele Name||shaker 1, 8 Jackson|
|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||B6;SJL-Tg(c177-lacZ)226Bri/J|
|General Note|| |
Genetic Background:The 266Bri stock on which Myo7ash1-8J arose was homozygous for a lacZ transgene. The mutation was not the result of the transgene integration, as not all animals exhibited the neurological phenotype.
|Molecular Note||Two genomic regions encompassing a total of about 6.4 kb was deleted n this mutation. One region spans about 3.6 kb and covers exons 38 through 40. The other region spans about 2.8 kb and covers exons 46 and 47. Immunoblot analysis failed to detect protein in extracts from homozygous mice.|
|Please inquire about possible genotypes.|
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