Log In|Sign Up
EN
ENU mutagenesis induced a C to T transition in exon 1 that results in the generation of a stop codon at position 203. This mutation, located in the KL1 domain, is severely hypomorphic and leads to a 17-fold reduction in renal expression, as determined by qRT-PCR analysis. (J:229255)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
