Cre mediated recombination resulted in the deletion of exons 3-5. Loss of this sequence produced a truncated, nonfunctional protein lacking the PIK, catalytic, and C2 domains that are required for induction of keratinocyte differentiation in vitro. Transcript was not detected in keratinocytes from mutants. Western blot failed to detect protein in mutant epidermis as well as brain and testis. (J:103754)

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
--
4

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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