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A fragment encompassing a portion of exon 1 and all of exons 2 and 3 was replaced by a lacZ-neo cassette inserted by homologous recombination. The deleted region encoded the first 112 amino acids. Transcript was undetected in homozygous mutant mice by Northern blot analysis of renal RNA and RT-PCR analysis of choroid plexus RNA. Western blot analysis indicated an absence of encoded protein in homozygous mutant kidney brush border vesicle preparations. (J:81906)
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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References Literature
Title
PMID
Journal
Year
IF
