A floxed neo cassette was inserted upstream of exon 13 and a T to G mutation was introduced in exon 13 resulting in a Ser to Ala substitution at position 522 (S522A). (J:180581)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count