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

Symbol: Oca2p-18J Name: oculocutaneous albinism II; pink-eyed dilution 18 Jackson MGI ID: MGI:4999725 Gene: Oca2  Location: Chr7:55889508-56186266 bp, + strand  Genetic Position: Chr7, 33.44 cM Alliance: Oca2p-18J page

Oca2p-18J/Oca2p-18J mice compared with pigmentation of wild-type, non-agouti black sibling Show the 3 phenotype image(s) involving this allele.

Strain of Origin:

B10.RIII-H2r H2-T18b/(71NS)SnJ

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: This spontaneous mutation was proven allelic with Oca2p by a failed complementation tests. A single C-to-A nucleotide transversion was identified at position 56,357,112 (GRCm38), changing alanine codon 649 to aspartic acid (p.A649D). (J:171807, J:207365, J:222308) 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:	67 strains or lines available

Original:	J:171807 Karst SY, et al., A new spontaneous mutation to pink-eyed dilution, Oca2p-18J. MGI Direct Data Submission. 2011;
All:	3 reference(s)