An FRT site and a lox5171 site flanked neomycin resistance gene cassette were inserted into intron 1 and serine codon 108 (AGC) in exon 2 and 3 was changed to alanine (GCC) (p.S108A). A loxP site, a second FRT site, a copy of the gene from exon 2 onward with intron 2 removed (and containing the p.S108A mutation in the fused exon 2-3), and an F3 site flanked puromycin resistance gene cassette and a second loxP site were inserted downstream of the gene. Subsequent Cre-mediated recombination removed the neo cassette, the duplicated sequence and puro cassette. This allele express transcripts containing the mutation on the endogenous exon structure. The mutation prevents phosphorylation of the residue in the encoded peptide. (J:342744)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NTac
Targeted
Insertion, Nucleotide substitutions
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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

Title
PMID
Journal
Year
IF
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