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 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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Spontaneous
Single point
--
1
14
14

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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