OMIA 002044-9823 : Ataxia telangiectasia in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 208900

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: Genetically-modifed organism; GMO

Molecular basis: This disorder was created by Beraldi et al. (2015) via homologous recombination and somatic cell nuclear transfer (SCNT), involving a premature termination stop codon in exon 57 of the ATM gene.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ATM ATM serine/threonine kinase Sus scrofa 9 NC_010451.4 (36620656..36759555) ATM Homologene, Ensembl, NCBI gene

Reference


2015 Beraldi, R., Chan, C.H., Rogers, C.S., Kovács, A.D., Meyerholz, D.K., Trantzas, C., Lambertz, A.M., Darbro, B.W., Weber, K.L., White, K.A., Rheeden, R.V., Kruer, M.C., Dacken, B.A., Wang, X.J., Davis, B.T., Rohret, J.A., Struzynski, J.T., Rohret, F.A., Weimer, J.M., Pearce, D.A. :
A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease. Hum Mol Genet 24:6473-84, 2015. Pubmed reference: 26374845. DOI: 10.1093/hmg/ddv356.

Edit History


  • Created by Frank Nicholas on 15 Sep 2016
  • Changed by Frank Nicholas on 15 Sep 2016
  • Changed by Frank Nicholas on 29 Sep 2016
  • Changed by Frank Nicholas on 17 Oct 2016