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This mutation was identified in an ENU mutagenesis screen. It constitutes a G-to-A transition at genomic nucleotide position +9414 from the translation initiation site, which replaces cysteine with tyrosine at amino acid position 986 of the protein (C986Y).
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 |
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References Literature
Title
PMID
Journal
Year
IF
