A G to A change at position 3509 resulting in an arginine to glutamine change at amino acid 1170 (R1170Q) was introduced in exon 25. An FRT-flanked neomycin cassette was inserted 418 bp downstream of exon 25 and was excised via Flp-mediated recombination. (J:277372)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count