Log In|Sign Up
EN
The rat cDNA containing a serine to arginine substitution at amino acid 83 (S83R) is under the control of the mouse 4.2-kb nephrin promoter. This mutation corresponds to the S80R mutation in a patient with Pierson syndrome. This record represents pooled data for the high and normal expressing lines or data where the line number is not specified. (J:280129)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
