A point mutation (H698R, corresponding to human disease-associated residue H662) is introduced into endogenous Sf3b1.
Amino acid replacement: H698D.
CAC570719CGT
CAC?CGT
H698R | Sf3b1-PA; H698R | Sf3b1-PB
H698R
Analogous mutation in human SF3B1 is associated with cancer.
Disease model in flies has not been developed.