The ENU-induced mutation was isolated in a screen looking for mice exhibiting end stage renal disease and was identified as a G to T change at position 1198 resulting in a glycine change to a stop codon at amino acid 400 (p.G400*). Immunofluorescence of kidneys confirmed absence of protein in glomeruli of homozygous mice. (J:285510)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
--
1
10
1

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

References Literature

Title
PMID
Journal
Year
IF
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