OMIA 000640-9615 : Menkes disease in Canis lupus familiaris

In other species: sheep

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 309400 (trait) , 300011 (gene)

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_051843.1 (61442067..61595242) 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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
107 Labrador Retriever Menkes disease ATP7A missense Naturally occurring variant CanFam3.1 X g.60279238C>T c.980C>T p.(T327I) rs852523339 rs852523339 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.
2022 Takanosu, M., Suzuki, K. :
Genotype frequency of ATP7A and ATP7B mutation-related copper-associated hepatitis in a Japanese guide dog Labrador retriever population. J Vet Med Sci 84:16-19, 2022. Pubmed reference: 34819411. DOI: 10.1292/jvms.21-0369.
2021 Corbee, R.J., Penning, L.C. :
COMMD1 exemplifies the power of inbred dogs to dissect genetic causes of rare copper-related disorders. Animals (Basel) 11:, 2021. Pubmed reference: 33668783. DOI: 10.3390/ani11030601.
2020 Wu, X., den Boer, E.R., Vos-Loohuis, M., Steenbeek, F.G.V., Monroe, G.R., Nijman, I.J., Leegwater, P.A.J., Fieten, H. :
Investigation of genetic modifiers of copper toxicosis in Labrador Retrievers. Life (Basel) 10:, 2020. Pubmed reference: 33142854. DOI: 10.3390/life10110266.
2019 Pindar, S., Ramirez, C. :
Predicting copper toxicosis: relationship between the ATP7A and ATP7B gene mutations and hepatic copper quantification in dogs. Hum Genet :, 2019. Pubmed reference: 31062085. DOI: 10.1007/s00439-019-02010-y.
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