Exon 4 was replaced with a modified exon 4 with a T to G mutation that results in an amino acid of alanine for serine at position 43 (S43A). A floxed neo cassette used for ES cell selection was removed by cre mediated recombination. In vitro, the mutation prevents phosphorylation at position 43 and subsequently reduce translocation into the nucleus. (J:156411)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Insertion, Single point
--
1
--
2

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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