Aspartic acid codon 73 (GAC) in exon 4 was changed to asparagine (AAC) (p.D73N) and a FRT site flanked neomycin resistance gene cassette was inserted into intron 4. The neo cassette was removed through subsequent Flp-mediated recombination. The mutation, in the second Ca<2+>-binding loop of the encoded peptide, desensitizes the peptide to Ca<2+>. (J:289662)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count