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Oca2p-cp
Radiation induced Allele Detail
Summary
Symbol: Oca2p-cp
Name: oculocutaneous albinism II; pink-eyed dilution cleft palate
MGI ID: MGI:1856116
Synonyms: p11H, pcp
Gene: Oca2  Location: Chr7:55889508-56186266 bp, + strand  Genetic Position: Chr7, 33.44 cM
Alliance: Oca2p-cp page
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Radiation induced
Mutation:    Deletion
  Oca2p-cp involves 4 genes/genome features (Gabrg3, Gabra5, Mir6389 ...) View all
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Oca2 Mutation:  67 strains or lines available
Notes
This mutation was found in the progeny of a neutron-irradiated male. Most homozygotes die soon after birth with cleft palate, but a few, presumably with unaffected or slightly affected palates, survive to maturity and are fertile. Female fertility is reduced; males have not been tested (J:2108). The pcp mutation has been shown to be a deletion, which disrupts genes for three gamma-aminobutyric acid type A receptors, Gabra5, Gabrb3, and Gabrg3, which are clustered on Chr 7. The human homologs of these receptor genes are closely linked with the genes for Angelman and Prader-Willi syndromes (J:13583).
References
Original:  J:13618 Phillips RJS, p11, a pink-eyed allele. Mouse News Lett. 1973;48:30
All:  9 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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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory