The detail information of Progressive retinal atrophy, type 3, FAM161A-related
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
CB243 Tibetan Spaniel 25.4 cm 4.1-6.8 kg Tibet
CB244 Tibetan Terrier 35.6-43.2 cm (male), slightly smaller (female) 8.2-13.6 kg (male), slightly smaller (female) Tibet
Associated Gene
There are no associated genes.
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.,Mellersh,C.S.: :
An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers. PLoS One 9:e93990, 2014.
Pubmed reference: 24705771 . DOI: 10.1371/journal.pone.0093990 .
2004 Ketteritzsch,K.,Hamann,H.,Brahm,R.,Grussendorf,H.,Rosenhagen,CU.,Distl,O.: :
Genetic analysis of presumed inherited eye diseases in Tibetan Terriers. Vet J 168:151-9, 2004.
Pubmed reference: 15301758 . DOI: 10.1016/S1090-0233(03)00143-6 .
1994 Bjerkas,E.,Narfstrom,K.: :
Progressive Retinal Atrophy in the Tibetan Spaniel in Norway and Sweden Veterinary Record 134:377-379, 1994.
Pubmed reference: 8009801 .
1988 Millichamp,N.J.,Curtis,R.,Barnett,K.C.: :
Progressive retinal atrophy in Tibetan terriers. J Am Vet Med Assoc 192:769-76, 1988.
Pubmed reference: 3356591 .
1978 Barnett,K.C.,Curtis,R.: :
Lens luxation and progressive retinal atrophy in the Tibetan Terrier Veterinary Record :160 only, 1978.
Pubmed reference: 308725 .