The detail information of Cerebellar cortical degeneration, Hungarian Vizsla
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: -
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 |
|---|---|---|---|---|---|---|
| CB251 | Hungarian Vizsla | 55.9-61 cm (male), 53.3-58.4 cm (female) | 24.9-27.2 kg (male), 20-24.9 kg (female) | Hungary |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| SNX14 | sorting nexin 14 | Canis lupus familiaris | Chr12 : 46368369 - 46295243 | 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.
| 2016 |
Fenn,J.,Boursnell,M.,Hitti,R.J.,Jenkins,C.A.,Terry,R.L.,Priestnall,S.L.,Kenny,P.J.,Mellersh,C.S.,Forman,O.P.: :
Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC Genet 17:123, 2016. Pubmed reference: 27566131 . DOI: 10.1186/s12863-016-0433-y . |