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This allele was first defined by a noncomplementation test. There is a G-to-C substitution at coding nucleotide 1790 (transcript NM_021099) which results in the glycine at amino acid position 597 being replaced by alanine (p.G597A). (J:19931, J:28100)
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
