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A neo cassette was inserted into exon 4 at nucleotide 7292 via homologous recombination. Northern blot and quantitative RT-PCR confirmed a 50% reduction in wild-type transcript and detected an aberrant message consisting of a splicing between exon 3 and the downstream neo cassette/exon 4 boundary in heterozygotes. Western blot analysis of kidney homogenates from homozygotes confirmed the absence of protein. (J:138969)
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
