The detail information of Golden Retriever PRA 2
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: 2014
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 |
---|---|---|---|---|---|---|
CB116 | Golden Retriever | 58.4-61 cm (male), 54.6-57.2 cm (female) | 29.5-34 kg (male), 24.9-29.5 kg (female) | United Kingdom (Scotland) |
Associated Gene
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
TTC8 | tetratricopeptide repeat domain 8 | Canis lupus familiaris | Chr8 : 60332658 - 60386187 | 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 |
Downs,L.M.,Aguirre,G.D.: :
FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. Adv Exp Med Biol 854:201-7, 2016. Pubmed reference: 26427412 . DOI: 10.1007/978-3-319-17121-0_27 . |
2014 |
Downs,L.M.,Wallin-Håkansson,B.,Bergström,T.,Mellersh,C.S.: :
A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genet Epidemiol 1:4, 2014. Pubmed reference: 26401321 . DOI: 10.1186/2052-6687-1-4 . |