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Tyrc-em
Spontaneous Allele Detail
Summary
Symbol: Tyrc-em
Name: tyrosinase; extreme dilution mottled
MGI ID: MGI:2683485
Gene: Tyr  Location: Chr7:87073979-87142637 bp, - strand  Genetic Position: Chr7, 49.01 cM
Alliance: Tyrc-em page
Mutation
origin
Strain of Origin:  Harwell Tyrc-m stock
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsGenomic analysis showed a c.1118C>T nucleotide substitution within the coding region resulting in a threonine to isoleucine amino acid change at position 373 (p.T373I) that abolishes an N-glycosylation sequon located in the second metal ion binding site of tyrosinase. (J:105054)
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: 4 strains available      Cell Lines: 0 lines available
Carrying any Tyr Mutation:  379 strains or lines available
Notes

Genbank ID for this allele: AY526904

References
Original:  J:13834 Phillips RJS, Modification of c-locus alleles - Mcm. Mouse News Lett. 1980;62:51-2
All:  3 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