Oca2<p> Spontaneous Allele Detail MGI Mouse (MGI:1856114)

Oca2^p
Spontaneous Allele Detail

Summary

Symbol:	Oca2^p
Name:	oculocutaneous albinism II; pink-eyed dilution
MGI ID:	MGI:1856114
Synonyms:	p, R262X
Gene:	Oca2 Location: Chr7:55889508-56186266 bp, + strand Genetic Position: Chr7, 33.44 cM
Alliance:	Oca2^p page

Mutation
origin

Strain of Origin:

Asiatic fancy mice

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: A nonsense substitution was identified to account for the phenotype. It is a C-to-T substitution in exon 7 in the codon for the 262nd amino acid of the OCA2 protein (p.R262). (J:259613*)
Inheritance:		Recessive

Phenotypes

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

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Oca2^p

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 11 strains available Cell Lines: 0 lines available
Carrying any Oca2 Mutation:	70 strains or lines available

Notes

Oca2^p is a very old mutation carried in many varieties of fancy mice (J:12958). It has been suggested that the original mutation occurred in Japanese wild mice, Mus musculus molossinus (J:19782).

References

Original:	J:211024 Durham FM, Further experiments on the inheritance of coat colour in mice. J Genet. 1911;1(3):159-178
All:	33 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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