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| Nomenclature |
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Symbol:
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Oca2p-cp
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Name:
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oculocutaneous albinism II;
pink-eyed dilution cleft palate
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MGI ID: |
MGI:1856116 |
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Synonyms: |
p11H, pcp |
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Gene:
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Oca2
Location:
Chr7:63495130-63791887 bp, + strand
Genetic Position: Chr7,
28.0 cM
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Mutation
origin |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: |
Radiation induced |
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Mutation: |
Deletion |
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Inheritance: |
Recessive |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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| Genotype | Allelic Composition | Genetic Background |
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  hm1
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Oca2p-cp/Oca2p-cp |
Not Specified |
lethality/prenatal-perinatal pigmentation behavior/neurological craniofacial growth/size skin/coat/nails vision/eye digestive/alimentary system |
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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).
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| References |
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Original: |
J:13618
Phillips RJ,
"p<11>, a pink-eyed allele"
Mouse News Lett 1973;48():30
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All: |
8 reference(s)
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