|  Help  |  About  |  Contact Us

Allele : Oca2<p-8Btlr> oculocutaneous albinism II; pink-eyed dilution 8 Bruce Beutler

Primary Identifier  MGI:6197816 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  ENU-induced T to C transition at base pair 56,295,460 (v38) on chromosome 7, or base pair 55,868 in the GenBank genomic region NC_000073 encoding Oca2. The mutation corresponds to residue 945 in the NM_021879 mRNA sequence in exon 8 of 24 total exons. The mutation results in a valine to alanine substitution at residue 272 in the OCA2 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • hardy,
  • hardy
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories