This mutation was induced by treatment with ethylnitrosourea as part of a genetic screen performed at the Novartis Institute for Functional Genomics. Sequence analysis shows that the mutation is a C-to-T change at nucleotide position 205 of the cDNA, which introduces a stop codon in exon 2A, changing glutamine at position 26 of the MITF protein to STOP. (J:154486)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Chemically induced
Single point
--
1
16
3

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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