Coding regions of the Tyrc-m gene are normal, but there is a rearrangement of 5'-upstream regulatory sequences including the locus control region of the Tyr gene. Low-level transcription of tyrosinase and reduced sensitivity to DNAase I was found in clones from light pigmenting melanocytes of homozygotes, while in clones from dark pigmenting cells, tyrosinase transcription was higher (though still less than wild-type) and DNAase sensitivity greater. The upstream rearrangement may separate the Tyr structural gene from cis-acting control elements. (J:997, J:105054)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C3H/HeH x 101/H)F1
Radiation induced
Other
Recessive
1
14
2

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

Title
PMID
Journal
Year
IF
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