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Oca2p-5Btlr
Chemically induced Allele Detail
Summary
Symbol: Oca2p-5Btlr
Name: oculocutaneous albinism II; pink-eyed dilution 5 Bruce Beutler
MGI ID: MGI:5578028
Synonyms: draco1
Gene: Oca2  Location: Chr7:55889508-56186266 bp, + strand  Genetic Position: Chr7, 33.44 cM
Alliance: Oca2p-5Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced A to T transversion at base pair 56423352 (v38) on Chromosome 7 in the GenBank genomic region NC_000073. The mutation corresponds to residue 2424 in the NM_021879 mRNA sequence in exon 22 of 24 total exons. The mutation results in a tyrosine (Y) to phenylalanine (F) substitution at residue 765. (J:212065)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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:  70 strains or lines available
References
Original:  J:212065 Purrington T, et al., Mutagenetix entry for draco1. 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
11/12/2024
MGI 6.24
The Jackson Laboratory