The detail information of Ataxia, cerebellar, ATP1B2-related
OMIA Basic Information
Possible human homologues (MIM numbers): -
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2017
Species-specific name: Spongy degeneration with cerebellar ataxia 2
Species-specific symbol: SDCA2
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB30 | Belgian Shepherd Dog | 61-66 cm (male), 55.9-61 cm (female) | 24.9-34 kg (male), 20.4-27.2 kg (female) | Belgium |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| ATP1B2 | ATPase, Na+/K+ transporting, beta 2 polypeptide | Canis lupus familiaris | Chr5 : 32653348 - 32659884 | 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.
| 2017 |
Mauri,N.,Kleiter,M.,Dietschi,E.,Leschnik,M.,Högler,S.,Wiedmer,M.,Dietrich,J.,Henke,D.,Steffen,F.,Schuller,S.,Gurtner,C.,Stokar-Regenscheit,N.,O'Toole,D.,Bilzer,T.,Herden,C.,Oevermann,A.,Jagannathan,V.,Leeb,T.: :
A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). G3 (Bethesda) 7:2729-2737, 2017. Pubmed reference: 28620085 . DOI: 10.1534/g3.117.043018 . |