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Allele : Oca2<p> oculocutaneous albinism II; pink-eyed dilution

Primary Identifier  MGI:1856114 Allele Type  Spontaneous
Gene  Oca2 Inheritance Mode  Recessive
Strain of Origin  Asiatic fancy mice Is Recombinase  false
Is Wild Type  false
description 

Oca2p 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).

molecularNote  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*).
  • mutations:
  • Single point mutation
  • synonyms:
  • p,
  • R262X,
  • p,
  • R262X
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

58 Carried By

0 Driven By

34 Publication categories