The detail information of Cystinuria, type II - B
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Dominant
Considered a defect: yes
Year key mutation first reported: 2013
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 |
---|---|---|---|---|---|---|
CB160 | Miniature Pinscher | 25.4-31.8 cm | 3.6-4.5 kg | Germany |
Associated Gene
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
SLC7A9 | solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 | Canis lupus familiaris | Chr1 : 119806922 - 119830085 | 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.
2013 |
Brons,A.K.,Henthorn,P.S.,Raj,K.,Fitzgerald,C.A.,Liu,J.,Sewell,A.C.,Giger,U.: :
SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med 27:1400-8, 2013. Pubmed reference: 24001348 . DOI: 10.1111/jvim.12176 . |