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Tyrc-Brd
Spontaneous Allele Detail
Nomenclature
Symbol: Tyrc-Brd
Name: tyrosinase; albino, Allan Bradley
MGI ID: MGI:3640303
Synonyms: C57BL/6c-, cBrd
Gene: Tyr  Location: Chr7:87073979-87142720 bp, - strand  Genetic Position: Chr7, 49.01 cM
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis mutation arose spontaneously in or around 1991 in the C57BL/6 colony of Dr. Alan Bradley. It has been used in linkage studies based on the location of the tyrosinase gene on Chr 7, and its phenotype is complemented by a tyrosinase mini-gene. Sequence analysis of exon 1 identified the same G-to-T transversion at coding nucleotide 230 (c.230G>T), resulting in replacement of arginine by leucine at amino acid position 77 (p.R77L), that is present in the albino 2 Jackson allele Tyrc-2J. It reverts at a very low frequency (there were two incidences in the original colony between 1992 and 1995), resulting in black pups in otherwise albino litters. (J:115975, J:115976)
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: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 6 strains available      Cell Lines: 0 lines available
Carrying any Tyr Mutation:  357 strains or lines available
References
Original:  J:50799 Liu P, et al., Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11. Genetics. 1998 Nov;150(3):1155-68
All:  15 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
11/23/2021
MGI 6.17
The Jackson Laboratory