Exon 3 contains a point mutation A to T that results in the amino acid substitution of tryptophan for arginine at position 100 (R100W). A floxed neomycin resistance cassette was inserted upstream of the modified exon 3. (J:276062)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count