Exon 1 was replaced with a PGK-neo cassette inserted by homologous recombination. The deleted exon contained the start codon and encoded the golgi retention signal. While the targeting vector was designed to disrupt both long and short isoforms, assays showed residual endogenous activity (less than 5% of wild-type levels) in homozygous mutant mice. (J:40026)

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
2
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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