A 2 kb fragment containing exons 11 though 13 was deleted resulting in the absence of 142 amino acids of the fifth Ig domain, the transmembrane domain, and the first 20 amino acids of the cytoplasmic tail. Splicing from exon 10 to 14 results in an out of frame transcript. The absence of protein exppression was confirmed by immunohistochemistry on neuromuscular junctions. (J:142595)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Intragenic deletion
--
1
1
2

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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