The detail information of Polyneuropathy, GJA9-related
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Incompletely Dominant
Considered a defect: yes
Year key mutation first reported: 2017
Species-specific name: -
Species-specific symbol: LPN2
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB152 | Leonberger | 71.1-80 cm (male), 64.8-74.9 cm (female) | 49.9-77.1 kg (male), 40.8-63.5 kg (female) | Germany |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| GJA9 | gap junction protein, alpha 9, 59kDa | Canis lupus familiaris | Chr15 : 3983099 - 3985924 | 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.
| 2017 |
Becker,D.,Minor,K.M.,Letko,A.,Ekenstedt,K.J.,Jagannathan,V.,Leeb,T.,Shelton,G.D.,Mickelson,J.R.,Drögemüller,C.: :
A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs. BMC Genomics 18:662, 2017. Pubmed reference: 28841859 . DOI: 10.1186/s12864-017-4081-z . |
| 2011 |
Granger,N.: :
Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease. Vet J 188:274-85, 2011. Pubmed reference: 20638305 . DOI: 10.1016/j.tvjl.2010.06.003 . |