A GGC -> GCC (G2A) mutation was inserted in exon 1 and a floxed neo cassette was inserted in intron 1 via homologous recombination. Cre mediated recombination removed the neo cassette. The mutation disrupts targeting of the protein to the cilia. (J:261989)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count