OMIA 000640-9615 : Menkes disease in Canis lupus familiaris

In other species: sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 309400

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Mapping: Guevara-Fujita et al (1996) mapped the canine Menkes gene to the X chromosome.

Molecular basis: Fieten et al. (2016): " the amino acid substitution ATP7A:p.Thr327Ile partly protected against copper accumulation"

Breed: Labrador Retriever.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ATP7A ATPase, Cu++ transporting, alpha polypeptide Canis lupus familiaris X NC_006621.3 (60203336..60356525) ATP7A Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

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
Labrador Retriever Menkes disease ATP7A missense CanFam3.1 X g.60279238C>T c.980C>T p.T327I 2016 26747866 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2016 Fieten, H., Gill, Y., Martin, A.J., Concilli, M., Dirksen, K., van Steenbeek, F.G., Spee, B., van den Ingh, T.S., Martens, E.C., Festa, P., Chesi, G., van de Sluis, B., Houwen, R.H., Watson, A.L., Aulchenko, Y.S., Hodgkinson, V.L., Zhu, S., Petris, M.J., Polishchuk, R.S., Leegwater, P.A., Rothuizen, J. :
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. Dis Model Mech 9:25-38, 2016. Pubmed reference: 26747866. DOI: 10.1242/dmm.020263.
Wu, X., Leegwater, P.A., Fieten, H. :
Canine Models for Copper Homeostasis Disorders. Int J Mol Sci 17:196, 2016. Pubmed reference: 26861285. DOI: 10.3390/ijms17020196.
1996 Guevara-Fujita, M.L., Loechel, R., Venta, P.J., Yuzbasiyan-Gurkan, V., Brewer, G.J. :
Chromosomal assignment of seven genes on canine chromosomes by fluorescence in situ hybridization Mammalian Genome 7:268-270, 1996. Pubmed reference: 8661696.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 14 Feb 2012
  • Changed by Frank Nicholas on 25 Oct 2016