Cystinuria Type II-B
            Breed: Miniature Pinscher
        
        
        
        
    Generic Phene Data
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  for these breeds 
                
            
            
            
                
                Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful  for these breeds 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Cystinuria Type II-B
            
        
        
        
            OMIA
        
    
    
            1880
            
        
        
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Cystinuria is disorder that affects a dog's ability to filter cystine out of urine. Cystine is generally insoluble in the acidic conditions of canine urine, allowing it to crystallize and form caliculi, also known as stones. Not every dog that has the mutation responsible for Cystinuria will exhibit symptoms. Stones causing inflammation and blockage are often more common in males, due to their long, narrow urethra. Females exhibit symptoms much less frequently and may never show signs of disease. In many breeds, symptoms are first noted at around 4-5 years. However, Newfoundlands carry a more severe form that other breeds, with problems developing and noticed at 6-12 months. Newfoundlands are much more likely to experience recurring urethral blockages, and require surgical intervention. Please note that the tests, and type of inheritance, and mutations for Cystinuria vary by breed. It is important to choose a test appropriate for your breed/type.
            
        
        
        
            Details 2
        
    
    
            As summarised by Brons et al. (2013), cystinuria type II - A is characterised by: present in males and females; not androgen-dependent; COLA [?mol/g creatinine (normal ?500)] ?8,000 in homozygotes and ?3,000 in heterozygotes (from OMIA)
            
        
        
        
            Published
        
    
    
            Brons,A.K.,Henthorn,P.S.,Raj,K.,Fitzgerald,C.A.,Liu,J.,Sewell,A.C.,Giger,U.: SLC3A1andSLC7A9mutationsinautosomalrecessiveordominantcaninecystinuria:anewclassificationsystem.JVetInternMed27:1400-8,2013.Pubmedreference:24001348.DOI:10.1111/jvim.12176.
            
        
        
        
            Body/System/Process
        
    
    
            Renal
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AD
            
        
        HSP Test-Specific Data
INNO
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            INNO
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        Laboklin Gmbh & Co. KG
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Laboklin Gmbh & Co. KG
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Cystine uroliths, Cystinuria Type 2
            
        
        
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            FCI Number
        
    
    
            185
            
        
        Agrotis S.r.l.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Agrotis S.r.l.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        EVG Diagnostics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            EVG Molecular Diagnostics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        BioBank AS
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            BioBank AS
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        Laboratorios Labocor S.L.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Laboratorios Labocor S.L.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        Certagen GmbH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Certagen GmbH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        Independent Veterinary Laboratory POISK
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Independent Veterinary Laboratory POISK
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Cystine uroliths, Cystinuria Type 2
            
        
        
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        VHL Genetics/ Combibreed
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VHL Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        Zoolyx
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Zoolyx
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        Genomia s.r.o
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Genomia s.r.o
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        
        
            Mutation Comment
        
    
    
            g.119211938G>A
            
        
        Generatio GmbH Center for Animal Genetics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Generatio GmbH Center for Animal Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Cystine uroliths, Cystinuria Type 2
            
        
        
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        AnimaLabs
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            AnimaLabs
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    CMSCH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            CMSCH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        VetGen LLC
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VetGen LLC
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        Progènes-ADN
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Progenes ADN
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        Embark
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Embark
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Cystine uroliths, Cystinuria Type 2
            
        
        
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            GTP- or Breed-Specific Publications
        
    
    
            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 sy
            
        
        
        
            Application in the Breed
        
    
    
            Affected animals (n/CYS2B, CYS2B/CYS2B) should not be used for breeding. Urolithiasis, the formation of calculi (crystals, stones) in the urinary tract. Obstruction of the urinary tract and recurrent cystitis.
            
        
        
        
            Inheritance
        
    
    
            AD
            
        
        
        
            FCI Number
        
    
    
            185
            
        
        
        
            GTP Breed
        
    
    
            Miniature Pinscher
            
        
        PharmaDNA
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            PharmaDNA
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.964G>A
            
        
        
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