A G to A missense mutation was introduced to correspond to the GAG to AAG mutation found in human SUR1-E1506K carriers. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of exon 36. Western blot analysis confirmed reduced protein expression in the islet. (J:208932)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count