Residue I7097, encoded by the last exon of the gene, was replaced by an Frt-neo-Frt cassette and stop codons in all reading frames thereby eliminating the C-terminal SH3 domain. Flp mediated recombination removed the neo cassette. Western blot analysis confirmed the absence of the nebulin SH3 domain. (J:211217)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count