Two point mutations were introduced into exon 7: M233T and L235P, and a neomycin resistance gene inserted into intron 6. Western blot demonstrated a normal levels of protein in mutants. (J:93770)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count