A G to A change at position 500 resulting in an arginine to glutamine substitution at amino acid 167 (R167Q) was introduced in exon 10 and a loxP-flanked neomycin cassette was inserted in intron 9. The neomycin selection cassette was removed via cre-mediated recombination. This is a mutation found in human dominant acute intermittent porphyria. (J:275245)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count