Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Oca2p-Btlr
Name:	oculocutaneous albinism II; pink-eyed dilution Bruce Beutler
MGI ID:	MGI:3783453
Synonyms:	Oca2m1Btlr, snowflake
Gene:	Oca2  Location: Chr7:55889508-56186266 bp, + strand  Genetic Position: Chr7, 33.44 cM
Alliance:	Oca2p-Btlr page

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

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	69 strains or lines available

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)