Threonine codon 355 (ACG) in exon 8 was changed to methionine (ATG) (p.T355M) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 7. The mutation, in the seventh transmembrane domain of the encoded peptide, is the equivalent of the human p.T356M mutation associated with autism spectrum disorder (ASD). (J:289651)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count