Oca2<p-3Btlr> Chemically induced Allele Detail MGI Mouse (MGI:3783463)

Oca2^p-3Btlr
Chemically induced Allele Detail

Summary

Symbol:	Oca2^p-3Btlr
Name:	oculocutaneous albinism II; pink-eyed dilution 3 Bruce Beutler
MGI ID:	MGI:3783463
Synonyms:	Oca2^m3Btlr, quicksilver
Gene:	Oca2 Location: Chr7:55889508-56186266 bp, + strand Genetic Position: Chr7, 33.44 cM
Alliance:	Oca2^p-3Btlr 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 quicksilver mutation corresponds to a G-to-A transition at nucleotide position 1487, in the 14th of 24 total exons, resulting in replacement of glutamic acid by lysine at amino acid position 453 of the protein (E453K), in a highly conserved lumenal segment between the 5th and 6th transmembrane domains. (J:133623)
Inheritance:		Recessive

Phenotypes

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

Expression

In Structures Affected by this Mutation:

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:133623 Eidenschenk C, et al., Quicksilver is an allele of Oca2 and diplays pigmentation defects. MGI Direct Data Submission. 2008;
All:	1 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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