This strain is homozygous for Mod2b, Myo5ash1, Hbbd, and Prss8fr.
The original shaker-1 mutation was found by Lord and Gates in 1929 (Lord, E.M.and W.H. Gates Am. Nat. 69:435-442). It arose in the Bagg albino stock of MacDowell 1929. It was maintained at the Jackson Laboratory in the pink-eye chinchilla shaker-1 stock of Dr. G. D. Snell. This stock was of mixed origin and had come from a cross of DBA and a pink-eyed chinchilla shaker-1 strain carrying a translocation described only as T(1;?)c. The mutation frizzy (fr) which arose spontaneously in the stock was also maintained in it and inbreeding was as a homozygous stock started in 1954. The stock is now known as the FS/Ei strain and is homozygous for Mod2b, Myo7ash1, Hbbd and fr as well as Oca2p, Tyrc-ch and Tyrp1b. It was cryopreserved by mating homozygotes at F102 in 1993.
|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||pink-eyed dilution|
|Allele Synonym(s)||p; R262X|
|Gene Symbol and Name||Oca2, oculocutaneous albinism II|
|Strain of Origin||Asiatic fancy mice|
|General Note|| |
Oca2p is a very old mutation carried in many varieties of fancy mice (J:12958). It has been suggested that the original mutation occurred in Japanese wild mice, Mus musculus molossinus (J:19782).
|Molecular Note||A nonsense substitution was identified to account for the phenotype. It is a C-to-T substitution in exon 7 in the codon for the 262nd amino acid of the OCA2 protein (p.R262*).|
|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.|
|Gene Symbol and Name||Prss8, protease, serine 8 (prostasin)|
|Strain of Origin||DBA x Tyrc-ch Oca2p Myo7ash1|
|Molecular Note||A T-to-A transversion in exon 4 changes a highly conserved non-polar valine at position 170 to a fully charged aspartate residue (p.V170D). Expression levels of the mutant protein are similar to expression levels of the wild-type protein. An enteropeptidase activated recombinant version of this mutant protien displays a low residual enzymatic activity for a fluorogenic peptide substrate.|