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Tyrm5Btlr
Chemically induced Allele Detail
Summary
Symbol: Tyrm5Btlr
Name: tyrosinase; mutation 5, Bruce Beutler
MGI ID: MGI:5607743
Synonyms: rufus
Gene: Tyr  Location: Chr7:87073979-87142637 bp, - strand  Genetic Position: Chr7, 49.01 cM
Alliance: Tyrm5Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsThe molecular lesion is a G to T transversion at base pair 87,492,706 (v38) on chromosome 7 or base pair 737 in the GenBank genomic region NC_000073, which corresponds to nucleotide 706 in the mRNA sequence NM_011661 within exon 5 of 5 total exons. The mutation results in a leucine (L) to phenylalanine (F) substitution at amino acid position 215 (L215F) of the protein. (J:216050)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Tyr Mutation:  379 strains or lines available
References
Original:  J:216050 Daniel C, et al., Mutagenetix entry for rufus. Updated on December 18, 2014. 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