FS/EiJ

Stock number: 000619
Research areas: Dermatology Research, Developmental Biology Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

This strain is extinct. Please search the JAX^® Mice Database for an alternative strain.

Development

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 Mod2^b, Myo7a^sh1, Hbb^d and fr as well as Oca2^p, Tyr^c-ch and Tyrp1^b. It was cryopreserved by mating homozygotes at F102 in 1993.

Allele

Symbol: Oca2^p
Name: pink-eyed dilution
MGI accession ID: MGI:1856114
Generation method: Spontaneous
Synonyms: p; R262X
Marker symbol: Oca2
Marker name: oculocutaneous albinism II
Marker synonyms: BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1
Chromosome: 7
Strain of origin: Asiatic fancy mice
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*).
General note:

Oca2^p 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).

Allele

Symbol: Myo7a^sh1
Name: shaker 1
MGI accession ID: MGI:1856716
Generation method: Spontaneous
Synonyms: sh1; shaker-1
Marker symbol: Myo7a
Marker name: myosin VIIA
Marker synonyms: DFNA11; DFNB2; Hdb; Myo7; MYOVIIA; MYU7A; nmf371; NSRD2; polka; USH1B
Chromosome: 7
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.

Allele

Symbol: Tyr^c-ch
Name: chinchilla
MGI accession ID: MGI:1855977
Generation method: Spontaneous
Synonyms: c^ch; c^r
Marker symbol: Tyr
Marker name: tyrosinase
Marker synonyms: ATN; CMM8; Oca1; OCA1A; OCAIA; SHEP3; skc35
Chromosome: 7
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

Symbol: Prss8^fr
Name: frizzy
MGI accession ID: MGI:1856875
Generation method: Spontaneous
Marker symbol: Prss8
Marker name: protease, serine 8 (prostasin)
Marker synonyms: 2410039E18Rik; CAP1; fr; mCAP1; PROSTASIN
Chromosome: 7
Strain of origin: DBA x Tyr^c-ch Oca2^p Myo7a^sh1
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.

Allele

Symbol: B2m^a
Name: a variant
MGI accession ID: MGI:6357680
Generation method: Spontaneous
Attributes: Not Applicable
Marker symbol: B2m
Marker name: beta-2 microglobulin
Marker synonyms: beta 2 microglobulin; beta2-m; IMD43; Ly-m11
Chromosome: 2
Strain of origin: multiple strains
Molecular note: The a variant is slightly slower running on SDS PAGE and was found to have an aspartic acid at amino acid position 85. This allele is found in A, BALB/c, LP and most other strains.