A loxP site (forward orientation) was inserted into intron 4 and a lox2272 site (forward orientation), an inverted copy of exons 5-6 (including intervening intron) where exon 6 contains a p.T178E mutation, a second loxP site (reverse orientation), a second lox2272 site (reverse orientation) and an FRT site flanked neomycin resistance gene were inserted into intron 6. The neo cassette was removed through subsequent Flp-mediated recombination. This allele expresses the wild-type transcript and peptide. Only after Cre-mediated recombination between the loxP and lox2272 sites will the inserted exons be flipped and replace the endogenous exons, allowing expression of the mutated peptide. The mutation involves changing threonine codon 178 (ACC) in exon 6 to glutamic acid (GAG), which is a phosphomimic and confers constitutive kinase activity upon the encoded peptide. (J:322311)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion
--
1
--
1

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

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PMID
Journal
Year
IF
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