Exon 8 was replaced with a modified one in which a T to G point mutation results in the amino acid substitution of valine for phenylalanine at position 341 (F341V). Cre-mediated recombination removed the floxed neomycin resistance cassette inserted upstream of the modified exon. (J:226418)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count