An A to G transition in exon 24 results in the amino acid substitution of glycine for aspartic acid at position 823 (D823G). A floxed neo cassette inserted upstream of the modified exon 24 was removed by cre mediated recombination. (J:160567)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count