The gene was disrupted by replacement of exons 2 and 3 with a PGK-neo cassette resulting in deletion of sequences encoding 3 of 4 transmembrane domains, the extracellular loop, and the C-terminal intracellular domain. Absence of gene expression in homozygous animals was demonstrated by Northern blot analysis of skeletal muscle RNA. Western blot analysis of skeletal muscle microsomes, and immunofluorescence analysis of smooth muscle cells from the small intestines further confirmed the absence of encoded protein in homozygous animals. (J:60294)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Intragenic deletion
--
1
--
10

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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