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
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
SLC7A9
Mutation
c.964G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
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
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
PharmaDNA
GTP
GTP Name
PharmaDNA
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
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
SLC7A9
Mutation
c.964G>A
INNO
GTP
GTP Name
INNO
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
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
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
CMSCH
GTP
GTP Name
CMSCH
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
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
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SLC7A9
Mutation
c.964G>A
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
SLC7A9
Mutation
c.964G>A