A G to T change resulting in a glycine to valine substitution at amino acid 328 was introduced in exon 8. In addition, a loxP-flanked STOP cassette and an FRT-flanked neomycin resistance cassette was inserted in intron 7. (J:285841)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count