Fig. 2

reh encodes UBIAD1. (A) Genetic map of the reh region. Numbers below SSLP markers indicate recombination events out of 1944 diploid embryos examined. The mapped reh critical region contains one BAC and one genomic scaffold. (B) Sequencing of ubiad1 cDNA revealed a T to A change at base pair 422 in the s587 mutant allele, resulting in a Leu-to-Gln substitution at residue 65. Black asterisk indicates the location of the mutation. (C,D) Eighty-seven percent of wild-type (wt) embryos injected with a ubiad1 splice morpholino exhibited cranial hemorrhage (black arrows) and mild cardiac edema (red arrowheads), but wild-type embryos injected with control morpholino displayed no discernible cardiovascular phenotypes. (E) Wild-type zebrafish ubiad1 (WT zfubiad1) mRNA, human UBIAD1 (WT hUBIAD1) mRNA and zebrafish kdrl:ubiad1 rescued the reh cardiac and vascular phenotype. However, neither zebrafish ubiad1^s587 (MT zfubiad1) mRNA nor zebrafish cmlc2:ubiad1 could rescue either reh cardiovascular mutant phenotypes.