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A C to A change at position 556 (c.C556A) resulting in an arginine to serine substitution at amino acid 186 (p.R186S) was introduced in the zona pellucida C domain. An FRT-flanked neomycin resistance cassette was also inserted and was removed via flp-mediated recombination. This corresponds to the R185S mutation identified in individuals with early-onset autosomal dominant tubulointerstitial kidney disease. (J:342964)
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
