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A spontaneous G-to-A point mutation in exon 7 results in the amino acid substitution of glutamic acid with lysine at position 383 (p.E383K). This mutation is not present in 129S1/Sv or 129S2/SvPas mice. Western blot analysis confirmed the absence of protein expression in the kidney cortex. (J:219017)
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
