Table 1.
Transgenic mouse models of congenital diaphragmatic hernia
| Symbol | Gene name | Diaphragmatic defect | Pulmonary abnormality |
|---|---|---|---|
| Rarα, Rarβ2 | Retinoic acid receptor, α and β2 | Diaphragmatic hernia | Lung hypoplasia, abnormal alveoli |
| Lrp1 | Low density lipoprotein receptor-related protein 1 | Diaphragmatic hernia | – |
| Nr2f2 (Couptf2) | Nuclear receptor subfamily 2, group F, member 2 | Posterior diaphragmatic hernia | Lung hypoplasia |
| Wt1 | Wilms tumor 1 homolog | Posterior diaphragmatic hernia | Lung hypoplasia |
| Msc (MyoR) | Musculin | Posterior diaphragmatic hernia | Lung hypoplasia, abnormal branching, abnormal vasculature |
| Tcf21 (capsulin) | Transcription factor 21 | Posterior diaphragmatic hernia | Lung hypoplasia, abnormal branching, abnormal vasculature |
| Gli2/3 | GLI-Kruppel family member 2 and 3 | Diaphragmatic hernia | Lung hypoplasia, absent right lung accessory lobe, thick mesenchyme |
| Shh | Sonic hedgehog | Diaphragmatic hernia | Lung hypoplasia |
| Kif7 | Kinesin family member 7 | Posterior diaphragmatic hernia | Lung hypoplasia |
| Zfpm2 (Fog2) | Zinc finger protein, multitype 2 | Posterolateral diaphragmatic hernia | Lung hypoplasia, absent right lung accessory lobe |
| Gata4 | GATA-binding protein 4 | Central diaphragmatic hernia (with sac) | Abnormal saccule morphologic features, abnormal vasculature |
| Sox7 | Sex determining region Y-box 7 | Retrosternal diaphragmatic hernia | – |
| Frem1 | FRAS1-related extracellular matrix 1 | Retrosternal diaphragmatic hernia | Lung lobulation defects |
| c-Met | Mesenchymal-epithelial transition factor | Amascular diaphragm with hernia | Abnormal saccule morphologic features |
| Fgf10 | Fibroblast growth factor 10 | Posterolateral diaphragmatic hernia | Lung hypoplasia |
| Slit3 | Slit guidance ligand 3 | Anterior midline diaphragmatic hernia | – |
| Lox | Lysyl oxidase |
Central diaphragmatic hernia, thin diaphragm muscle |
Lung hypoplasia, abnormal acini, abnormal elastic fibers |
| Pdgfra | Platelet-derived growth factor receptor, α-polypeptide | Posterolateral diaphragmatic hernia | Lung hypoplasia, abnormal alveoli, increased cell proliferation |
| Robo1/2 | Roundabout guidance receptor 1/2 | Posterior diaphragmatic hernia | Abnormal alveoli, thick septa |
| Ndst1 | N-deacetylase-N-sulfotransferase-1 | Diaphragmatic hernia in the anterior midline of the septum transversum | – |