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Serine codon 23 (TCA) in exon 2 was changed to alanine (GCA) (p.S23A). Transient cre recombinase expression excised a loxP site flanked puromycin resistance gene cassette that was inserted into intron1. RT-PCR of mutant MEFs confirmed correct targeting. The mutation prevents the phosphorylation of the residue in the encoded peptide. (J:92917)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
