The detail information of Menkes disease
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: X-linked
Considered a defect: yes
Year key mutation first reported: 2016
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB147 | Labrador Retriever | 57.2-62.2 cm (male), 54.6-59.7 cm (female) | 29.5-36.3 kg (male), 24.9-31.8 kg (female) | Canada, United Kingdom (England) |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| ATP7A | ATPase, Cu++ transporting, alpha polypeptide | Canis lupus familiaris | ChrX : 61442067 - 61595242 | Homologene, Ensembl, NCBI gene |
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.
| 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 . |
| 2016 |
Fieten,H.,Gill,Y.,Martin,A.J.,Concilli,M.,Dirksen,K.,vanSteenbeek,F.G.,Spee,B.,vandenIngh,T.S.,Martens,E.C.,Festa,P.,Chesi,G.,vandeSluis,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 . |
| 2016 |
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 . |