Oca2^p-4Btlr
Chemically induced Allele Detail

Summary

• Symbol: Oca2^p-4Btlr
• Name: oculocutaneous albinism II; pink-eyed dilution 4 Bruce Beutler
• MGI ID: MGI:3783466
• Synonyms: charbon, Oca2^m4Btlr
• Gene: Oca2 Location: Chr7:55889508-56186266 bp, + strand Genetic Position: Chr7, 33.44 cM
• Alliance: Oca2^p-4Btlr 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 charbon mutation corresponds to a T-to-C transition at nucleotide position 1274, in the 11th of 24 total exons, resulting in replacement of threonine by alanine at amino acid position 382 of the protein (T382A), in the fourth transmembrane domain. (J:133624)
• 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:133624 Eidenschenk C, et al., Charbon is an allele of Oca2 and displays pigmentation defects. MGI Direct Data Submission. 2008
• All: 1 reference(s)