Exon 11 was replaced with a modified exon 11 in which a G to A substitution results in the amino acid substitution of histidine for arginine at position 528 (R528H). Cre-mediated recombination removed the neo cassette. (J:193967)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count