This strain is homozygous for Tyrc-ch and segregating for Myo7ash1.
Mice homozygous for the shaker 1 spontaneous mutation (Myo7ash1) show circling, head-tossing, deafness, and hyperactivity characteristic of this type of mutant mice. Viability is normal, and breeding ability is high for a circling mutant. Homozygous mutant mice are most often deaf and swim well on the surface of water up to 4 weeks of age and more but lose the ability later. The degenerative changes of the labyrinth may occur a little later than in some of the other waltzing mutants. By light microscopy, the changes are seen to consist of degeneration of the organ of Corti, the spiral ganglion, and the stria vascularis in the cochlea, and of the saccular macula and the vestibular ganglion in the vestibular labyrinth.
The shaker 1 (Myo7ash1) strain originated in 1957 with two FS/Ei siblings at F5 mated. One sibling was also mated to a C57BL/6J and the offspring of the two FS/Ei mice were mated to a C3HeB/FeJ. Several within stock matings were made from both crosses and 2 siblings were each mated to a C3HeB/FeJ. Two generations were stock bred and the chinchilla shaker1 genotype was selected for inbreeding with the Myo7ash1 locus segregating. It was cryopreserved in 1989 by mating chinchilla shaker1 (Tyrc-ch Myo7ash1/Tyrc-ch Myo7ash1) males to chinchilla but shaker1 heterozygous (Tyrc-ch Myo7ash1/Tyrc-ch +) females at F96.
|Allele Synonym(s)||cch; cr|
|Gene Symbol and Name||Tyr, tyrosinase|
|Strain of Origin||fancier's stock|
|Molecular Note||The mutation in the chinchilla allele was found to be a G-to-A point mutation that results in an amino acid change at position 482 or 464 from alanine to threonine (p.A482T for pre-protein, p.A464T for mature protein).|
|Allele Name||shaker 1|
|Allele Synonym(s)||sh1; shaker-1|
|Gene Symbol and Name||Myo7a, myosin VIIA|
|Strain of Origin||BALB at F12|
|Molecular Note||A G-to-C transversion mutation results in an arginine to proline change at position 502 in the encoded protein (p.R502P). This mutation lies within the head domain of the protein. Northern blot analysis indicated that mRNA expression, size, and stability were unaffected. Immunoblot analysis showed that normal levels of the protein was expressed.|
When using the chinchilla shaker1 mouse strain in a publication, please include JAX stock #000271 in your Materials and Methods section.