The detail information of Ataxia, spinocerebellar, ITPR1-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: 2015
Species-specific name: Spinocerebellar ataxia
Species-specific symbol: SCAIS
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB231 | Spinone Italiano | 58.4-68.6 cm (male), 55.9-63.5 cm (female) | 25.4 kg | Italy |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| ITPR1 | inositol 1,4,5-trisphosphate receptor, type 1 | Canis lupus familiaris | Chr- : - - - | 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.
| 2015 |
Forman,O.P.,DeRisio,L.,Matiasek,K.,Platt,S.,Mellersh,C.: :
Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. Mamm Genome 26:108-17, 2015. Pubmed reference: 25354648 . DOI: 10.1007/s00335-014-9547-6 . |