To mimic a mutation associated with hereditary pancreatitis in human (p.K23R), lysine codon 24 (AAA) in exon 2 was mutated to an arginine codon (AGA) (c.71A>G, p.K24R). A loxP site flanked neomycin resistance gene cassette was inserted into intron 1 and removed through subsequent cre-mediated recombination. (J:320409)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count