Exon 2 was flanked by loxP sites and a loxP-tk-neo cassette was inserted into the upstream intron via homologous recombination. Transient expression of cre recominase in correctly targeted cells facilitated the removal of exon 2 and the loxP-tk-neo cassette. The mutation deletes the cytoplasmic, tranmembrane, and the majority of the catalytic domains. Enzymatic analysis of liver and spleen extracts from homozygous mutant animals showed no detectable enzyme activity. (J:79166)

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
--
23

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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