Exon 11 was replaced with a floxed neo cassette and a modified exon 11 in which nucleotide substitution results in the amino acid substitution of alanine for serine at position 526 (S526A). Cre-mediated recombination removed the neo cassette. (J:178406)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count