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The codon for leucine 4122 in exon 45 was deleted and a loxP site flanked neomycin resistance gene cassette was inserted into intron 45. The deletion mimics the p.Leu4132Del mutation in some human autosomal dominant polycystic kidney disease (ADPKD) patients. The mutation is in the crucial G protein binding domain and creates a functional knock-out. (J:266901)
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
