Oca2^p-J
Spontaneous Allele Detail

Summary

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

Diluted coat color and pink eyes of Oca2^p-J/Oca2^p-J mice (lower) compared to the Oca2^p-J/+ mouse (upper)

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C3H/HeJ

Mutation description

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

Find Mice (IMSR)

• 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: 70 strains or lines available

References

• 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)