Tyr<c-Brd> Spontaneous Allele Detail MGI Mouse (MGI:3640303)

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Tyr^c-Brd
Spontaneous Allele Detail

Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Summary

Symbol:	Tyr^c-Brd
Name:	tyrosinase; albino, Allan Bradley
MGI ID:	MGI:3640303
Synonyms:	C57BL/6^c-, c^Brd
Gene:	Tyr Location: Chr7:87073979-87142637 bp, - strand Genetic Position: Chr7, 49.01 cM
Alliance:	Tyr^c-Brd page

Mutation
origin

Strain of Origin:

C57BL/6

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: This 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 Tyr^c-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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Mice Carrying this Mutation:	3 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 8 strains available Cell Lines: 0 lines available
Carrying any Tyr Mutation:	379 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:	17 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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