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A floxed neo cassette was inserted into intron 10 and a G to A mutation, resulting in a premature stop codon at position 516 (W516X), was inserted into exon 11 via homologous recombination. Cre mediated recombination removed the neo cassette. RT-PCR indicates a significant reduction in expression in kidneys in homozygous and heterozygous mice. Immunofluorescence analysis failed to detect protein expression in kidneys from homozygous mice. (J:186877)
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
