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Results: 9

1.
Figure 9

Figure 9. Graph depicting distribution of ODAs per cilium.. From: Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

ODAs were counted from cross-sectional electron micrographs of cilia from the tracheal epithelia of wild-type, heterozygote, and homozygote mutant animals. The Kruskal-Wallis ANOVA test showed a significant difference in the 3 genotypes, with P < 0.0001.

Serena Y. Tan, et al. J Clin Invest. 2007 December 3;117(12):3742-3752.
2.
Figure 6

Figure 6. Necropsies showing outflow tract defects in Dnahc5del593 mutants. . From: Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

(A) D-malposition of great vessels is shown with levocardia with anterior and rightward Ao relative to the PA. EFIC analysis showed that this heart was D-looped with D-TGA. (B) Dextrocardia with anterior and leftward aorta indicating L-malposition of great vessels. EFIC showed this was a D-looped heart with L-TGA. (C) Mesocardia with parallel great vessels and right-sided aorta, i.e., D-malposition. EFIC showed that this heart was D-looped with D-TGA. (D) Dextrocardia with parallel great vessels and left-sided aorta, i.e., L-malposition. EFIC showed that this heart was D-looped with DORV. Scale bar: 1 mm.

Serena Y. Tan, et al. J Clin Invest. 2007 December 3;117(12):3742-3752.
3.
Figure 8

Figure 8. SEMs and TEMs of tracheal epithelial cilia.. From: Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

(AC) SEMs of tracheal epithelial cilia from wild-type (+/+) (A), heterozygote (m/+) (B), and homozygote mutant (m/m) (C) animals. Note the marked disorientation in the m/m cilia. Scale bar in B: 500 μm (AC). (DF) TEMs show +/+ cilia (D) with ODA on almost every doublet; m/m cilia (F) with 1 or no ODA; and m/+ cilia (E), some well-populated with ODAs and others with reduced numbers of ODAs. Scale bar in E: 500 nm (DF). (GI) High-powered TEMs of +/+ (G), m/+ (H), and m/m (I) tracheal epithelial cilia, with black arrowheads indicating ODAs. Scale bar in H: 500 nm (GI). (J and K) SEMs of E7.75 wild-type (J) and homozygous (K) mutant embryos show that cells in the embryonic node are monociliated.

Serena Y. Tan, et al. J Clin Invest. 2007 December 3;117(12):3742-3752.
4.
Figure 7

Figure 7. EFIC imaging of heart exhibiting mesocardia with inlet VSD and D-TGA.. From: Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

(A) EFIC 3D reconstruction showing anterior view of same heart shown in Figure 3C. (B) D-TGA is observed with the Ao on the right and connected with the mRV. The PA is on the left and connected with the mLV. (CF) EFIC frontal section images of the same heart. The PA and Ao, distally septated (C), are seen to fuse at their attachment to the heart (D). The resultant inlet VSD (IVSD) is straddled by a single AV valve leaflet (AVL) (E). The PA continues into the LV, and the Ao into the RV, resulting in D-TGA (F). Scale bars: 500 μm.

Serena Y. Tan, et al. J Clin Invest. 2007 December 3;117(12):3742-3752.
5.
Figure 4

Figure 4. Images of anomalous venous return.. From: Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

(A) Two inferior venous structures are seen in this mutant. (B) 3D reconstruction show opening of dual cava (arrowheads) into the base of the atria, with the right IVC (RIVC) most anterior. The mRV is positioned superiorly and the mLV inferiorly. (C) 3D reconstruction looking posteriorly at the left and right IVCs connecting to the base of the 2 morphologic right atria suggests right atrial isomerism. The arrowheads highlight the border of the AV canal, from which blood empties into both the mLV and mRV. Side-by-side outflows are also present with the aorta anterior and on the left and the PA on the right. (D) Original 2D image looking anteriorly at the 2 atria. Note the presence of duplicated IVC entering into the base of both morphologic right atria. RA, right atrium. Scale bars: 500 μm.

Serena Y. Tan, et al. J Clin Invest. 2007 December 3;117(12):3742-3752.
6.
Figure 1

Figure 1. Situs anomalies in Dnahc5del593 mutants. . From: Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

(A) Situs solitus with levocardia. The right lung (R) has 4 lobes, and the left lung (L) has 1. Arrow indicates direction of heart (H) apex. The stomach (S) is on the left. (B) Situs inversus totalis with dextrocardia. Note 4 left (labeled 1, 2, 3, and 4) and 1 right (R1) lung lobes, with stomach on the right. (C and D) Heterotaxy with levocardia. Note right aortic arch (RAA), 1 lung lobe on each side (R1 and L1), and stomach on the right (C). After removal of the liver, azygos continuation (arrowhead) of the interrupted inferior vena was found (D). K, kidney. Scale bar in D: 250 mm (AD).

Serena Y. Tan, et al. J Clin Invest. 2007 December 3;117(12):3742-3752.
7.
Figure 3

Figure 3. Histological analysis of cardiac anomalies.. From: Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

(A and B) Outflow tract defects. (A) Posterior view of heart exhibiting dextrocardia with TOF. The aorta (Ao) overrides the VSD and is continuous with both the left-sided morphologic right ventricle (mRV) and the right-sided morphologic left ventricle (mLV). The pulmonary artery (PA) is narrower than the Ao. The mitral valve (MV) is continuous with the aortic valve and opens into the mLV. (B) Posterior view of heart with levocardia and DORV. Both the PA and Ao open into the right-sided mRV. (C and D) Atrial isomerism and common AV canal. (C) Frontal view showing left atrial isomerism with both SVCs entering the common atrium (CA) laterally. Rather than the right SVC entering the roof of the right atrium and the left SVC entering the right atrium via the coronary sinus, the SVCs return symmetrically to the sides of the CA, which serves as both the right atrium and the coronary sinus. Two hepatic veins (HVs) also return directly via midline to the common atrium inferiorly. (D) Resectioned 2D transverse slice from 3D reconstruction, showing a common AV canal (AVC) with a single AV leaflet. Note the symmetry of the 2 SVCs. Scale bars: 200 μm.

Serena Y. Tan, et al. J Clin Invest. 2007 December 3;117(12):3742-3752.
8.
Figure 5

Figure 5. Superior-inferior ventricles and AV canal defect.. From: Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

(A) Superior-inferior ventricles with congested superior ventricle and atrial appendages with Ao and PA side by side. Note this same heart is shown in different views in Figure 4. (B) 3D model shows mLV is inferior and right-sided, while the mRV is superior and left-sided. (C) 3D reconstruction in an apical orientation looking anteriorly at 2 papillary muscles in the smaller, inferior mLV, as indicated by the 2 arrowheads. There is also a small, muscular VSD present near the apex. (D) Anterior view shows a larger, superior mRV with the septomarginalis (M) between the superior ventricular outflow tract and the body of the right ventricle. The aortic and pulmonic valves (AV and PV) both arise from the mRV, giving rise to a DORV with a VSD. The arrowhead indicates the AV canal defect. (E) Anterior view of 3D EFIC reconstruction illustrates side-by-side, semilunar valves of similar height associated with DORV. The bicuspid aortic valve (AV) is on the left, and the tricuspid pulmonic valve (PV) is on the right. An AV canal defect (AVC) is situated at the crux of the heart. (F) Frontal 2D section showing the same AVC as in E entering both the mRV and the mLV, with a VSD denoted by the arrow. LA, left atrium. Scale bars: 500 μm.

Serena Y. Tan, et al. J Clin Invest. 2007 December 3;117(12):3742-3752.
9.
Figure 2

Figure 2. Dnahc5 mutation involves an in-frame DNA deletion. . From: Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

(A) Genomic DNA amplification using primers situated in introns 6 and 17 of the Dnahc5 gene yielded a 3.3-kb DNA fragment from a mutant embryo exhibiting heterotaxy (lane 4), while no product was obtained in DNA from normal control embryos (lanes 2, 3, and 5) or no template control (lane 1). (B) Dnahc5 cDNA sequencing showed that exon 6 is contiguous with sequence in exon 18 (arrow), indicating deletion of exons 7–17. (C) The upper bar depicts the exon/intron organization of the mouse Dnahc5 gene. Immediately below is a schematic of the Dnahc5 mRNA transcript. The red box delineates the region deleted in the Dnahc5del593 mutant. The Pfam domains in the protein (http://pfam.sanger.ac.uk/) are shown, including dynein heavy chain N-terminal domains 1 and 2 (DHC_N1 and _N2; residues 246–804 and 1,397–1,809, respectively) and dynein heavy chain domain (residues 3,924–4,619). Two Pfam ATPase domains (residues 2,254–2,398 and 2,582–2,729) were not shown for clarity. (D) Expanded view showing region of the Dnahc5 gene containing DNA insertion derived from other chromosomes. Red: 401 bp of 31-bp tandem repeat region 99% identical to Chr4:131,017,719–131,018,166 (excluding a 47-bp gap); yellow: 265 bp of the 3′-untranslated region of the Csnk2a1 gene (Chr2:151,972,987–151,973,251); green: 1,204 bp of the last exon of the Zbtb33 gene (ChrX:34,437,887–34,439,090); blue: 516 bp of a long-terminal repeat with 100% identity at 9 locations in the mouse genome (e.g., ChrX:122,343,361–122,343,876).

Serena Y. Tan, et al. J Clin Invest. 2007 December 3;117(12):3742-3752.

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