Figure 2.

Congenital Heart Defects in Human and Mouse

(A) Percentages of CHD in all available human and mouse genotypes relevant for this study. Genotypes consisted of wild-type, Crkl-WT, hypomorphic (Crkl-NEO/NEO and Crkl-NEO/−), and null (Crkl-KO).

(B and C) Human LCR22B–D deletion is indicated as B-D; LCR22C–D deletion is indicated as C-D, LCR22C to beyond LCR22D is indicated as C-D-plus. Genotype-phenotype heatmaps indicating phenotype status for each subject with CHD are given for human (B) and mouse (C) data.

(B) Human subjects with LCR22B–D or LCR22C–D deletions are shown along the x axis. The various reported cardiac phenotypes are shown on the y axis. The most common phenotype is TOF, which includes an OA with VSD, associated with a hypertrophic right ventricle (thick ventricle; TV) and PS. ABAAM (abnormal branch arch artery morphology) and DORV are seen only in subjects with LCR22B–D deletions.

(C) Mouse samples with different Crkl alleles are shown along the x axis and observed phenotypes are shown along the y axis. Mice with the lowest level of Crkl expression have DORV or TOF. In mouse embryo tissue sections, TOF is defined as the presence of OA, VSD, TV, and PS. Row and column clustering was performed by Euclidean distance measures. Abbreviations are as follows: ASD, atrial septal defect; ABAAM, abnormal branchial (pharyngeal) arch artery morphology; DORV, double outlet right ventricle; PTA, persistent truncus arteriosus; VDS, ventricular septal defect; TV, thick ventricular wall; OA, overriding aorta; and PS, pulmonary stenosis. “Other” represents non-conotruncal cardiac defects.