The detail information of Neuronal ceroid lipofuscinosis, 6
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: 2011
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 |
|---|---|---|---|---|---|---|
| CB16 | Australian Shepherd | 50.8-58.4 cm (male), 45.7-53.3 cm (female) | 24.9-31.8 kg (male), 15.9-24.9 kg (female) | United States |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| CLN6 | ceroid-lipofuscinosis, neuronal 6, late infantile, variant | Canis lupus familiaris | Chr30 : 32459741 - 32442020 | 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 |
Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 . |
| 2017 |
Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 . |
| 2013 |
Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 . |
| 2011 |
Katz,ML.,Farias,FH.,Sanders,DN.,Zeng,R.,Khan,S.,Johnson,GS.,O'Brien,DP.: :
A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Biotechnol 2011:198042, 2011. Pubmed reference: 21234413 . DOI: 10.1155/2011/198042 . |
| 2010 |
Bellettato,C.M.,Scarpa,M.: :
Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis 33:347-62, 2010. Pubmed reference: 20429032 . DOI: 10.1007/s10545-010-9075-9 . |
| 2008 |
O'Brien,DP.,Katz,ML.: :
Neuronal ceroid lipofuscinosis in 3 Australian shepherd littermates. J Vet Intern Med 22:472-5, 2008. Pubmed reference: 18371036 . DOI: 10.1111/j.1939-1676.2008.0079.x . |