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Oca2p-6Btlr
Chemically induced Allele Detail
Nomenclature
Symbol: Oca2p-6Btlr
Name: oculocutaneous albinism II; pink-eyed dilution 6 Bruce Beutler
MGI ID: MGI:5607162
Synonyms: cotton
Gene: Oca2  Location: Chr7:55889508-56186266 bp, + strand  Genetic Position: Chr7, 33.44 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsThe 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. (J:215820)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Oca2 Mutation:  58 strains or lines available
References
Original:  J:215820 Prince L, et al., Mutagenetix entry for cotton. MGI Direct Data Submission. 2014;
All:  1 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
09/14/2021
MGI 6.17
The Jackson Laboratory