OMIA 001574-9615 : Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive in Canis lupus familiaris

In other species: pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 601457

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Species-specific symbol: T-B-NK+ SCID

Molecular basis: Verfuurden et al. (2011): c.2893G>T; p.Glu965* in Frisian Water Dog

Breed: Frisian Water Dog.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RAG1 recombination activating gene 1 Canis lupus familiaris 18 NC_006600.3 (31639980..31628231) RAG1 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Frisian Water Dog Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive RAG1 nonsense (stop-gain) CanFam3.1 18 g.31631772G>T c.2893G>T p.E965* 2011 21293384 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Reference


2011 Verfuurden, B., Wempe, F., Reinink, P., van Kooten, PJ., Martens, E., Gerritsen, R., Vos, JH., Rutten, VP., Leegwater, PA. :
Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun 12:310-3, 2011. Pubmed reference: 21293384. DOI: 10.1038/gene.2011.6.

Edit History


  • Created by Frank Nicholas on 13 Jul 2011
  • Changed by Frank Nicholas on 10 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 31 Mar 2016
  • Changed by Frank Nicholas on 28 Aug 2016