This phenotypic mutation, identified in an ENU mutagenesis screen, is a T-to-C transition at nucleotide position 1601 that results in replacement of tryptophan by arginine at amino acid position 504 of the protein (W504R), which resides in the kinase domain. The level of the protein in homozygous and heterozygous mutant thymocytes is approximately 25% and 50% that in wild-type thymocytes, respectively.

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6JSfdAnu
Chemically induced
Single point
Recessive
1
6
5

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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