Aspartic acid codon 215 (GAT) in exon 2 was mutated to alanine (GCT) (p.D215A). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 1 was removed through subsequent cre-mediated recombination. (J:281456)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count