This mutation, which was identified in an ENU mutagenesis screen, comprises a T-to-C transition at nucleotide 412 that results in replacement of arginine with cystein at amino acid position 138 of the protein (R138C).

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6JSfdAnu
Chemically induced
Single point
Semidominant
1
65
--

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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