OMIA:002394-9986 : Cleft lip, GADD45G-related in Oryctolagus cuniculus |
Categories: Craniofacial phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 604949 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Species-specific description: Lu et al. (2019) "reported the generation of a novel GADD45G mutated rabbit model by CRISPR/Cas9 and CRISPR-based BE4-Gam systems. The homozygous (GADD45G-/-) while not heterozygous (GADD45G+/-) pups died after birth due to severe craniofacial defects of unilateral or bilateral cleft lip (CL)."
This phene includes references to studies involving genetically modified organisms (GMO).
Clinical features: Lu et al. (2019): "all GADD45G−/− rabbits died within three days of birth and exhibited unilateral (10%) or bilateral (90%) cleft lip (CL) at the postnatal 3 days ...."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| GADD45G | growth arrest and DNA-damage-inducible, gamma | Oryctolagus cuniculus | 1 | NC_067374.1 (92242997..92241406) | GADD45G | Homologene, Ensembl , NCBI gene |
Reference
| 2019 | Lu, Y., Liang, M., Zhang, Q., Liu, Z., Song, Y., Lai, L., Li, Z. : |
| Mutations of GADD45G in rabbits cause cleft lip by the disorder of proliferation, apoptosis and epithelial-mesenchymal transition (EMT). Biochim Biophys Acta Mol Basis Dis 1865:2356-2367, 2019. Pubmed reference: 31150757 . DOI: 10.1016/j.bbadis.2019.05.015. |
Edit History
- Changed by Imke Tammen2 on 22 Aug 2021
- Created by Imke Tammen2 on 22 Aug 2021