OMIA 002394-9986 : Cleft lip, GADD45G-related in Oryctolagus cuniculus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 604949 (gene)

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_013669.1 (78241422..78240320) 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


  • Created by Imke Tammen2 on 22 Aug 2021
  • Changed by Imke Tammen2 on 22 Aug 2021