Ψ TBX22 - Chrysochloris asiatica
Reference Gene:
Job_ID:
Curator:
| GlossID | Species | Gene Loss Mechanism | Loss Type | Lineage Specific | Evidence | Accession Nr. |
|---|---|---|---|---|---|---|
| GL_4OLYYQ | Chrysochloris asiatica | LOF (frameshift, premature stop, ss) | Full | No | Single individual SRA |
Statements
| Type | Excerpt | DOI |
|---|---|---|
| Mutation Description | "TBX22 encodes a developmental transcriptional factor. We found that TBX22 is lost in three species comprising dog, guinea pig and cape golden mole (Supplementary Figure S2)." | 10.1093/nargab/lqz012 |
| Phenotypic | "Loss-of-function mutations in human TBX22 cause a submucous cleft palate, a common birth defect that involves improper insertion of palatine muscle onto the hard palate and ankyloglossia (tongue-tie) (68,69)." | 10.1093/nargab/lqz012 |
| Phenotypic | "TBX22 knockout mice also show a submucous cleft palate and ankyloglossia; thus they resemble the phenotype observed in humans with TBX22 mutations (71)." | 10.1093/nargab/lqz012 |