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Allele : Oca2<p-6Btlr> oculocutaneous albinism II; pink-eyed dilution 6 Bruce Beutler

Primary Identifier  MGI:5607162 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Oca2
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  The molecular lesion is a T to A transversion at base pair 56,535,968 (v38) on chromosome 7, or base pair 296,376 in the GenBank genomic region NC_000073. This corresponds to nucleotide 2,571 of the mRNA sequence NM_021879 within exon 4 of 24 total exons. The mutation results in a methionine (M) to lysine (K) substitution at position 814 (M814K) in the OCA2 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • cotton,
  • cotton
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele