A T to G mutation in exon 5 results in the amino acid substitution of alanine for serine at position 86 (S86A). An FRT-flanked neomycin resistance cassette was inserted into intron 6. (J:262920)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count