Table 4.
Craniofacial phenotypes of DGS/VCFS mouse model.
| Gene Symbol | Induced Mutation Type | Cranium | Palate | Teeth | Muscles | Ear-Nose-Throat | Hyoid Bones | Cardio-Vascular |
|---|---|---|---|---|---|---|---|---|
| Tbx1 | Null | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Chrd | Null | Yes | Yes | nr | nr | Yes | Yes | Yes |
| Tgfbr2 | Deletion (Wnt1-Cre) | Yes | Yes | nr | nr | nr | nr | Yes |
| Vegfa | Null | Yes | Yes | Yes | nr | nr | nr | Yes |
| Fgf8 | Hypomorphic allele | Yes | Yes | Yes | nr | Yes | Yes | Yes |
| Crkl | Null | Yes | nr | nr | nr | Yes | nr | Yes |
| Aldh1a2 | Hypomorphic allele | nr | nr | nr | nr | Yes | Yes | Yes |
| Hoxa3 | Null | nr | Yes | nr | Yes | Yes | Yes | Yes |
| Kat6a | Null | nr | Yes | nr | nr | Yes | nr | Yes |
| Dicer1 | Deletion (Wnt1-Cre) | Yes | nr | nr | nr | nr | nr | Yes |
| Plxnd1 | Single point mutation | nr | Yes | nr | nr | Yes | nr | Yes |
| Dock1 | Undefined | nr | nr | nr | nr | Yes | nr | Yes |
| Ndst1 | Single point mutation | nr | nr | nr | nr | Yes | nr | Yes |
| Prickle1 | Single point mutation | Yes | Yes | nr | nr | Yes | nr | Yes |
| Trappc10 | Undefined | Yes | Yes | nr | nr | nr | nr | Yes |
| Zfp366 | Single point mutation | nr | nr | nr | nr | Yes | nr | Yes |
| Foxn1 | Intragenic deletion | nr | nr | nr | nr | Yes | nr | Yes |
Mouse models of DiGeorge syndrome with phenotypic similarity to human diseases can be found in the Mouse Genome Informatics (MGI) database (http://www.informatics.jax.org accessed on 3 August 2021). Data were summarized from the following references [6,7,8,9,10,29,30,31,32,33,34,35,36,52,53,54,55,56,57,58,59,60,61]. nr, not reported. A detailed description is provided in Table S2.