Substitutions (c.196AGC>GAG) were engineered in codon 196 in exon 6, changing it from a serine to a glutamate codon (p.Ser196Glu or p.S196E). A loxP site flanked neomycin resistance gene was inserted into intron 7. the neo cassette was removed through subsequent cre-mediated recombination. In the peptide the mutation acts as a phosphomimetic. (J:242315)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Nucleotide substitutions
--
1
2
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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