C3H/HeJ-Oca2^p-J/J

Stock number: 000513
Product name: pink-eyed dilution Jackson
Research areas: Dermatology Research, Mouse/Human Gene Homologs

Description

These mice carry a spontaneous mutation at the Oca2 locus characterized by a significant dilution of coat color with pink eyes.

Detailed description

Oca2^p-J/Oca2^p-J mice exhibit significant dilution of coat color with pink eyes, a phenotype similar to that produced by Oca2^p/Oca2^p. The Oca2^p-J mutation is a partial deletion of the gene that completely ablates Oca2^p function (Oakey et al. 1996).

Development

The Oca2^p-J mutation occurred spontaneously in the C3H/HeJ strain at The Jackson Laboratory in 1974.

Allele

Symbol: Oca2^p-J
Name: pink-eyed dilution Jackson
MGI accession ID: MGI:1856127
Generation method: Spontaneous
Marker symbol: Oca2
Marker name: oculocutaneous albinism II
Chromosome: 7
Strain of origin: C3H/HeJ
Molecular note: This allele was shown to be allelic to Oca2^p by a complementation test. Southern blot analysis of Sst1-digested genomic DNA from mice homozygous for this allele, probed with a 1.0-kb DraIII fragment derived from cDNA clone MC2701, revealed deletion of two exon-bearing fragments (6.9 and 10.0 kb) found in wild-type DNA. The deletion has been shown to result in loss from the transcript of 350 base pairs encompassing nucleotides 2195-2545, derived from exons 20-23, and to produce a frameshift resulting in a protein additonally lacking exon 24-encoded amino acids. The missing amino acids include the last part of transmembrane domain 9 and all of transmembrane domains 10-12.