The detail information of Neuroaxonal dystrophy, TECPR2-related
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: -
Considered a defect: yes
Year key mutation first reported: 2015
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 |
|---|---|---|---|---|---|---|
| CB230 | Spanish Water Dog | 44.5-50.2 cm (male), 40-45.7 cm (female) | 18.1-22.2 kg (male), 14.1-18.1 kg (female) | Spain |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| TECPR2 | tectonin beta-propeller repeat containing 2 | Canis lupus familiaris | Chr8 : 70610039 - 70711934 | 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 |
Hahn,K.,Rohdin,C.,Jagannathan,V.,Wohlsein,P.,Baumgärtner,W.,Seehusen,F.,Spitzbarth,I.,Grandon,R.,Drögemüller,C.,Jäderlund,K.H.: :
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS One 10:e0141824, 2015. Pubmed reference: 26555167 . DOI: 10.1371/journal.pone.0141824 . |