Spinal Dysraphism
Breed: Weimaraner/ longhaired
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Spinal Dysraphism
OMIA
938
Gene Name
NKX2-8
Mutation
p.A150VfsX1
Mutation 2
c.174del_G
Mutation 3
ins2bp(AA)
Mutation 4
G>AA, A150VfsX1
Test Type
Genetic Disease/Disorder
Details
Spinal dysraphism is present at birth and is an inherited condition that is co-dominant. Myelodysplasia occurs as a result of pre-natal development that is abnormal and malformations of the spinal cord occur. Lesions in the spinal column form and are most severe in the lumbar or lower back region. The puppies will have an awkward gait or will bunny hop on the hind end.The disease will become apparent between four and six weeks of age when puppies begin walking. This is a non-progressive disease and most dogs diagnosed are able to live fairly normal lives.
Details 2
Neural tube defects (NTDs) is a general term for central nervous system malformations secondary to a failure of closure or development of the neural tube. The resulting pathologies may involve the brain, spinal cord and/or vertebral column, in addition to associated structures such as soft tissue or skin. The condition is reported among the more common birth defects in humans, leading to significant infant morbidity and mortality. The etiology remains poorly understood but genetic, nutritional, environmental factors, or a combination of these, are known to play a role in the development of NTDs. The variable conditions associated with NTDs occur naturally in dogs, and have been previously reported in the Weimaraner breed. (From Safra et al, 2013)
Published
Safra, N., Bassuk, A.G., Ferguson, P.J., Aguilar, M., Coulson, R.L., Thomas, N., Hitchens, P.L., Dickinson, P.J., Vernau, K.M., Wolf, Z.T., Bannasch, D.L. : Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans. PLoS Genet 9:e1003646, 2013. Pubmed reference: 23874236. DOI: 10.1371/journal.pgen.1003646.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
NKX2-8
Mutation
G>AA, A150VfsX1
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Spina Bifida
Gene Name
NKX2-8
Mutation
c.174del_G;ins2bp(AA)
Nature of test
mutation test
Application in the Breed
Spinal chord malformation resulting in motor function disorder of the hind limbs
Inheritance
AR
FCI Number
99
GTP Breed
Weimaraner/ Longhaired
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
NKX2-8
Mutation
G>AA, A150VfsX1
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
NKX2-8
Mutation
G>AA, A150VfsX1
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
NKX2-8
Mutation
G>AA, A150VfsX1
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
NKX2-8
Mutation
G>AA, A150VfsX1
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
NKX2-8
Mutation
G>AA, A150VfsX1
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Spina Bifida
Gene Name
NKX2-8
Mutation
Complex Rearrangement
Nature of test
mutation test
FCI Number
99
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
NKX2-8
Mutation
G>AA, A150VfsX1
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
NKX2-8
Mutation
G>AA, A150VfsX1
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Spina Bifida
Gene Name
NKX2-8
Mutation
G>AA, A150VfsX1
Nature of test
mutation test
GTP- or Breed-Specific Publications
Safra N, Bassuk AG, Ferguson PJ, Aguilar M, Coulson RL, Thomas N, Hitchens PL, Dickinson PJ, Vernau KM, Wolf ZT, Bannasch DL. Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tu
Application in the Breed
Neural tube defect, abnormal gait, hind limb weakness
Inheritance
AR
FCI Number
99
GTP Breed
Weimaraner/ Longhaired
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
NKX2-8
Mutation
c.174del_G;ins2bp(AA)
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
NKX2-8
Mutation
G>AA, A150VfsX1
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Spina Bifida
Gene Name
NKX2-8
Mutation
Complex Rearrangement
Nature of test
mutation test
FCI Number
99
GTP Breed
Weimaraner/ Longhaired
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
NKX2-8
Mutation
G>AA, A150VfsX1
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA