Oca2^p-6Btlr
Chemically induced Allele Detail

Summary

• Symbol: Oca2^p-6Btlr
• Name: oculocutaneous albinism II; pink-eyed dilution 6 Bruce Beutler
• MGI ID: MGI:5607162
• Synonyms: cotton
• Gene: Oca2 Location: Chr7:55889508-56186266 bp, + strand Genetic Position: Chr7, 33.44 cM
• Alliance: Oca2^p-6Btlr 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: The molecular lesion is a T to A transversion at base pair 56,535,968 (v38) on chromosome 7, or base pair 296,376 in the GenBank genomic region NC_000073. This corresponds to nucleotide 2,571 of the mRNA sequence NM_021879 within exon 4 of 24 total exons. The mutation results in a methionine (M) to lysine (K) substitution at position 814 (M814K) in the OCA2 protein. (J:215820)
• Inheritance: Recessive

Disease models

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:215820 Prince L, et al., Mutagenetix entry for cotton. MGI Direct Data Submission. 2014
• All: 1 reference(s)