Exon 6 was replaced with one in which an A to G point mutation results in the amino acid substitution of glutamic acid for lysine at position 196 (K196E). Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of the modified exon 6. (J:230086)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count