Exon 2 was replaced with a modified one in which a point mutation results in the amino acid substitution of proline for alanine at position 30 (A30P), mimicking a mutation found in some Parkinson's disease patients. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted between exon 1a and exon 1b. (J:201391)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count