Oca2^p-Btlr
Chemically induced Allele Detail

Summary

• Symbol: Oca2^p-Btlr
• Name: oculocutaneous albinism II; pink-eyed dilution Bruce Beutler
• MGI ID: MGI:3783453
• Synonyms: Oca2^m1Btlr, snowflake
• Gene: Oca2 Location: Chr7:55889508-56186266 bp, + strand Genetic Position: Chr7, 33.44 cM
• Alliance: Oca2^p-Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The snowflake mutation corresponds to a C-to-T transition at nucleotide position 1506, in the 14th of 24 total exons, resulting in replacement of proline by leucine at amino acid 459 of the protein (P458L), in a highly conserved lumenal segment between the 5th and 6th transmembrane domains. (J:133621)
• 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: 70 strains or lines available

References

• Original: J:133621 Crozat K, et al., Snowflake is an allele of Oca2 and displays pigmentation defects. MGI Direct Data Submission. 2008
• All: 1 reference(s)