The detail information of Ataxia, cerebellar, progressive early-onset, SEL1L-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: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB341 | Grand Bleu de Gascogne(Great Gascony Blue) | 64.8-69.9 cm (male), 59.7-64.8 cm (female) | France |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| SEL1L | sel-1 suppressor of lin-12-like (C. elegans) | Canis lupus familiaris | Chr8 : 54055128 - 53998407 | 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 |
Kyöstilä,K.,Cizinauskas,S.,Seppälä,E.H.,Suhonen,E.,Jeserevics,J.,Sukura,A.,Syrjä,P.,Lohi,H.: :
A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum-Associated Protein Degradation (ERAD) Machinery. PLoS Genet 8:e1002759, 2012. Pubmed reference: 22719266 . DOI: 10.1371/journal.pgen.1002759 . |
| 1971 |
Tonttila,P.,Lindberg,L.A.: :
[Cerebellar ataxia in a Finnish hurrier] Ett fall av cerebellar ataxi hos finsk stövare (Swedish) Suomen Eläinlääkärilehti 77:135–138, 1971. |