The detail information of Ataxia, cerebellar, KCNIP4-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: 2020
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| KCNIP4 | Kv channel interacting protein 4 | Canis lupus familiaris | Chr3 : 88754615 - 89880267 | 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.
| 2020 |
Jenkins,C.A.,Kalmar,L.,Matiasek,K.,Mari,L.,Kyöstilä,K.,Lohi,H.,Schofield,E.C.,Mellersh,C.S.,DeRisio,L.,Ricketts,S.L.: :
Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PLoS Genet 16:e1008527, 2020. Pubmed reference: 31999692 . DOI: 10.1371/journal.pgen.1008527 . |
| 2018 |
Mari,L.,Matiasek,K.,Jenkins,C.A.,DeStefani,A.,Ricketts,S.L.,Forman,O.,DeRisio,L.: :
Hereditary ataxia in four related Norwegian Buhunds. J Am Vet Med Assoc 253:774-780, 2018. Pubmed reference: 30179085 . DOI: 10.2460/javma.253.6.774 . |