Oca2p-J/Oca2p-J mice exhibit significant dilution of coat color with pink eyes, a phenotype similar to that produced by Oca2p/Oca2p. The Oca2p-J mutation is a partial deletion of the gene that completely ablates Oca2p function (Oakey et al. 1996).
The Oca2p-J mutation occurred spontaneously in the C3H/HeJ strain at The Jackson Laboratory in 1974.
|Allele Name||pink-eyed dilution Jackson|
|Gene Symbol and Name||Oca2, oculocutaneous albinism II|
|Strain of Origin||C3H/HeJ|
|Molecular Note||This allele was shown to be allelic to Oca2p 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.|
When using the pink-eyed dilution Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #000513 in your Materials and Methods section.