The detail information of Cystinuria, type I - A
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: 2000

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
CB147 Labrador Retriever 57.2-62.2 cm (male), 54.6-59.7 cm (female) 29.5-36.3 kg (male), 24.9-31.8 kg (female) Canada, United Kingdom (England)
CB166 Newfoundland 71.1 cm (male), 66 cm (female) 59-68 kg (male), 45.4-54.4 kg (female) Canada
Associated Gene
Symbol Description Species Position Other Links
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 Canis lupus familiaris Chr10 : 47580243 - 47618780 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 .
2009 Houston,D.M.,Moore,A.E.: :
Canine and feline urolithiasis: Examination of over 50 000 urolith submissions to the Canadian veterinary urolith centre from 1998 to 2008. Canadian Veterinary Journal 50:1263–1268, 2009.
2006 Harnevik,L.,Hoppe,A.,Söderkvist,P.: :
SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria. Mamm Genome 17:769-76, 2006.
Pubmed reference: 16845473 . DOI: 10.1007/s00335-005-0146-4 .
2006 Matos,A.J.,Mascarenhas,C.,Magalhães,P.,Pinto,J.P.: :
Efficient screening of the cystinuria-related C663T Slc3a1 nonsense mutation in Newfoundland dogs by denaturing high-performance liquid chromatography. J Vet Diagn Invest 18:102-5, 2006.
Pubmed reference: 16566266 .
2001 Hoppe,A.,Denneberg,T.: :
Cystinuria in the dog: Clinical studies during 14 years of medical treatment (vol 15, pg 361, 2001) Journal of Veterinary Internal Medicine 15:594, 2001.
2000 Henthorn,P.S.,Liu,J.L.,Gidalevich,T.,Fang,J.K.,Casal,M.L.,Patterson,D.F.,Giger,U.: :
Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs Human Genetics 107:295-303, 2000.
Pubmed reference: 11129328 .
1999 Osborne,C.A.,Sanderson,S.L.,Lulich,J.P.,Bartges,J.W.,Ulrich,L.K.,Koehler,L.A.,Bird,K.A.,Swanson,L.L.: :
Canine cystine urolithiasis. Cause, detection, treatment, and prevention. Vet Clin North Am Small Anim Pract 29:193-211, xiii, 1999.
Pubmed reference: 10028158 .
1995 Casal,M.L.,Giger,U.,Bovee,K.C.,Patterson,D.F.: :
Inheritance of cystinuria and renal defect in Newfoundlands. J Am Vet Med Assoc 207:1585-9, 1995.
Pubmed reference: 7493896 .
1993 Hoppe,A.,Denneberg,T.,Jeppsson,J.O.,Kagedal,B.: :
Canine Cystinuria - An Extended Study on the Effects of 2- Mercaptopropionylglycine on Cystine Urolithiasis and Urinary Cystine Excretion British Veterinary Journal 149:235-251, 1993.
Pubmed reference: 8334506 . DOI: 10.1016/S0007-1935(05)80170-8 .
1993 Hoppe,A.,Denneberg,T.,Jeppsson,J.O.,Kagedal,B.: :
Urinary Excretion of Amino Acids in Normal and Cystinuric Dogs British Veterinary Journal 149:253-268, 1993.
Pubmed reference: 8334507 . DOI: 10.1016/S0007-1935(05)80171-X .
1993 Nash,A.S.: :
Canine Cystinuria - Something Old, Something New British Veterinary Journal 149:205-206, 1993.
Pubmed reference: 8334504 . DOI: 10.1016/S0007-1935(05)80167-8 .
1940 Brand,E.,Cahill,G.F.,Kassell,B.: :
Canine cystinuria V. Family history of two cystinuria dogs and cystine determinates in dog urine Journal of Biological Chemistry 133:431-436, 1940.
1936 Brand,E.,Cahill,G.F.: :
Canine cystinuria. III Journal of Biological Chemistry 15:114-, 1936.
1823 Lassaigne,J.: :
Observation sur l'existence de l'oxide cystique dans un calcul vesical du chien, et essai analytique sur la composition élémentaire de cette substance particulière. Ann Chim Phys 23:328–334, 1823.