The detail information of Cerebellar hypoplasia, VLDLR-associated
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: Dandy-Walker-like malformation
Species-specific symbol: DWLM
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB101 | Eurasier | 52-60cm (male) 48-56cm (female) | 23-32kg (male) 18-26kg (female) | Germany |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| VLDLR | very low density lipoprotein receptor | Canis lupus familiaris | Chr1 : 91786552 - 91821587 | 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 |
Bernardino,F.,Rentmeister,K.,Schmidt,M.J.,Bruehschwein,A.,Matiasek,K.,Matiasek,L.A.,Lauda,A.,Schoon,H.A.,Fischer,A.: :
Inferior cerebellar hypoplasia resembling a dandy-walker-like malformation in purebred eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study. PLoS One 10:e0117670, 2015. Pubmed reference: 25668516 . DOI: 10.1371/journal.pone.0117670 . |
| 2015 |
Gerber,M.,Fischer,A.,Jagannathan,V.,Drögemüller,M.,Drögemüller,C.,Schmidt,M.J.,Bernardino,F.,Manz,E.,Matiasek,K.,Rentmeister,K.,Leeb,T.: :
A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM). PLoS One 10:e0108917, 2015. Pubmed reference: 25668033 . DOI: 10.1371/journal.pone.0108917 . |