Exon 3 was replaced with one with a nucleotide substitution resulting in the amino acid substitutions of arginine with aspartic acid at position 114 (R114D). Flp-mediated recombination removed the selection cassette inserted into intron 5 and a puromycin cassette inserted into intron 9. Exons 6 through 9 remained floxed. (J:288980)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count