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Exon 29 was replaced with a modified exon in which arginine codon 3269 (AGA) was changed to cysteine (TGC) (c.9805.9807AGA>TGC, p.R3269C), which corresponds to the human autosomal dominant polycystic kidney disease (ADPKD)-associated p.R3277C mutation. Cre-mediated recombination removed a floxed puromycin cassette inserted downstream of exon 30. (J:193544)
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
