Localization and characterization of the cardiac mutation. (A) The genome-wide distribution of P-values for tests of association between transcribed polymorphisms and the c mutant phenotype. (B) Distribution of P-values across Chromosome 13. (C) Identification and PCR validation of a large deletion that is associated with the c phenotype and removes exons 8 and 9 of tnnt2. (D) Verification that these same exons are expressed in wild-type individuals, but not in individuals with the c phenotype. (E) Example of two siblings from a cross segregating for the cardiac mutation: (top) wild-type; (bottom) cardiac homozygote. Note the thoracic edema and lack of erythrocytes in the developing heart (white arrows) of cardiac mutants (Supplemental Fig. S3).
