The majority of exon 12, which encodes the kinase subdomains 2 through 4 common to the 3 known isoforms (alpha, beta, and gamma), was replaced by a neomycin selection cassette inserted by homologous recombination. While, RT-PCR analysis showed the presence of an aberrant splice product, sequence analysis showed it generated a frameshift mutation in the open reading frame. Western blot analysis verified the absence of protein. (J:78945)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Intragenic deletion
--
1
4
18

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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