The detail information of Ataxia, spinocerebellar, SPTBN2-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: 2012
Species-specific name: Neonatal cerebellar cortical degeneration
Species-specific symbol: -
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB24 | English Beagle | 33 cm & under 33-38.1 cm | under 9.1 kg (5.9 inches & under), 9.1-13.6 kg (5.9-6.8 inches) | United Kingdom (England) |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| SPTBN2 | spectrin, beta, non-erythrocytic 2 | Canis lupus familiaris | Chr18 : 51662893 - 51701379 | 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.
| 2012 |
Forman,O.P.,DeRisio,L.,Stewart,J.,Mellersh,C.S.,Beltran,E.: :
Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet 13:55, 2012. Pubmed reference: 22781464 . DOI: 10.1186/1471-2156-13-55 . |