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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count