Oca2^p-8Btlr
Chemically induced Allele Detail

Summary

• Symbol: Oca2^p-8Btlr
• Name: oculocutaneous albinism II; pink-eyed dilution 8 Bruce Beutler
• MGI ID: MGI:6197816
• Synonyms: hardy
• Gene: Oca2 Location: Chr7:55889508-56186266 bp, + strand Genetic Position: Chr7, 33.44 cM
• Alliance: Oca2^p-8Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to C transition at base pair 56,295,460 (v38) on chromosome 7, or base pair 55,868 in the GenBank genomic region NC_000073 encoding Oca2. The mutation corresponds to residue 945 in the NM_021879 mRNA sequence in exon 8 of 24 total exons. The mutation results in a valine to alanine substitution at residue 272 in the OCA2 protein. (J:264643)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

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

References

• Original: J:264643 Reyna C, et al., Mutagenetix entry for hardy. MGI Direct Data Submission. 2018
• All: 1 reference(s)