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| Nomenclature |
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Symbol:
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Tyrc-Brd
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Name:
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tyrosinase;
albino, Allan Bradley
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MGI ID: |
MGI:3640303 |
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Synonyms: |
C57BL/6c-, cBrd |
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Gene:
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Tyr
Location:
Chr7:87427405-87493411 bp, - strand
Genetic Position: Chr7,
49.01 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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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 nucleotide position 291 (G291T), resulting in replacement of arginine by leucine at amino acid position 77, that is present in the albino 2 Jackson allele. 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
13 reference(s)
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Analysis Tools
