Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol: Oca2p-J Name: oculocutaneous albinism II; pink-eyed dilution Jackson MGI ID: MGI:1856127 Synonyms: pJ Gene: Oca2  Location: Chr7:55889508-56186266 bp, + strand  Genetic Position: Chr7, 33.44 cM Alliance: Oca2p-J page

Diluted coat color and pink eyes of Oca2p-J/Oca2p-J mice (lower) compared to the Oca2p-J/+ mouse (upper) Show the 2 phenotype image(s) involving this allele.

Strain of Origin:

C3H/HeJ

Allele Type:    Spontaneous Mutation:    Deletion   Oca2p-J involves 1 genes/genome features (Oca2) View all   Mutation details: 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. (J:2206, J:32816) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any Oca2 Mutation:	67 strains or lines available

Original:	J:2108 Lyon MF, et al., Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. Proc Natl Acad Sci U S A. 1992 Aug 1;89(15):6968-72
All:	7 reference(s)