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ENU mutagenesis induced a G to T transversion that results in the amino acid substitution of alanine to serine at position 341 (A341S). Western blot analysis confirmed the absence of protein expression in the liver of homozygotes and partial loss in the liver of heterozygotes. (J:223083)
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
