A floxed neomycin selection cassette, a cDNA containing exons 5-10, and a third loxP site were all inserted in intron 4. The endogenous exon 5 was replaced with one encoding an M120A mutation. The floxed neo and exons 5-10 minigene were excised by cre resulting in expression of the mutated exon 5. (J:163375)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count