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Direct sequence of this allele and comparison with normal c-kit indicated a nonsynonymous coding mutation of a 5-bp deletion in N-term extracellular domain that result in a frameshift yielding two nonsynonymous substitutions (R186C and A188S) and an in-frame, premature STOP at position 190. (J:151778)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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
