Codon 284 was altered from GCATGCCGT to GCAGCGCGT. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted between exon 7 and 8. (J:268223)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count