Figure 1.

Homozygous mutation of Cxcl12 causes SLV dysplasia and hyperplasia

(A–D) E15.5 wild-type (A and C) and Cxcl12^−/− (B and D) SLVs, whole-mount immunostained with anti-PECAM-1 antibody (confocal images). Arrows in (B) and (D) indicate top and bottom edges of left and right leaflets; leaflet alignment is abnormal in (B) and normal in (D).

(E and F) E12.5 wild-type (E) and Cxcl12^−/− (F) AoVs, whole-mount immunostained with anti-PECAM-1 antibody (confocal images). Arrows indicate alignment of the top edges of left and right leaflets, abnormal in (F).

(G–L) 3D reconstructions (Imaris) of E15.5 control (G and H) and Cxcl12^−/− SLVs showing leaflet misalignment (I–K), hyperplasia (I, J, and L), and bicuspid PV (L). Leaflet color is as follows: green (right), blue (left), and red (non-coronary or anterior).

(M and N) Graphs show individual or combined leaflet volumes (total volume, mm³) for AoV (M) and PV (N) in E15.5 control and Cxcl12^−/− hearts. Error bars represent ± SD; ns, non-significant; ^∗p < 0.05 (unpaired Student’s t test).

AoV, aortic valve; PV, pulmonary valve; SLV, semilunar valve. All scale bars represent 100 μm. See also Figure S1.