A duplicate of exon 6, which encodes the third and fourth transmembrane domains, was disrupted by a PGK-neo cassette, and inserted into intron 5. Transcript was not detected in the kidneys of homozyous or hemizygous mutant mice by Northern blot analysis. Western blot analysis of renal extracts showed an absence of protein in hemizygous mutant mice. (J:66560)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion
--
1
5
13

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

References Literature

Title
PMID
Journal
Year
IF
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