Ppp3r1^tm1.1Jhon

An A to C change at position 305 resulting in an aspartate to alanine substitution at amino acid 102 (p.D102A) was introduced into exon 4. In addition, a loxP-flanked neomycin selection cassette was inserted between exon 3 and 4, which was removed via cre-mediated recombination. The p.D102A variant was detected in a proband with dilated cardiomyopathy. (J:298603)