A serine to alanine change at amino acid 729 (S729A) was introduced in exon 17 and a FRT-flanked neomycin selection cassette was inserted downstream of exon 17. Flp-mediated recombination removed the selection cassette. (J:261443)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count