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An ENU induced mutation created a new splice site in intron 11-12 resulting in skipping of exon 12 and inclusion of 25 bps of intronic sequence and a premature stop codon at amino acid 618. Immunoblot analysis confirmed the expression of a mutant protein in the kidneys that has lower molecular weight, consistent with a 48 amino acid deletion. (J:174942)
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
