An A to T change at position 343 (c.343A>T) resulting in an isoleucine to phenylalanine substitution at amino acid 115 (p.I115F) was introduced into exon 3. An FRT-flanked neomycin resistance cassette that was inserted in intron 3 was removed via flp-mediated recombination. (J:285187)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count