Hypomyelination
Breed: Weimaraner/ longhaired
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 in this breed
General
Disease Name
Hypomyelination
OMIA
526
Gene Name
FNIP2
Mutation
c.880delA
Test Type
Genetic Disease/Disorder
Details
Hypomyelination, commonly known as shaking puppy syndrome, effects the myelination of the nerves of the central nervous system. Symptoms can vary by breed, but primarily include a loss of precise muscle control manifesting as tremour, especially in the hind legs. In puppies, this can cause problems with feeding. Symptoms in puppies may worsen with excitement, and decrease when puppies are less active. In some breeds, this is reported to be progressive to fatality. In other breeds, this is reported as diminishing in severity with age. Age of onset, present from birth with puppies appearing normal until 1-2 weeks of age on average. Exact age of onset can vary. Between different dog breeds, inheritance may vary - it is suggested in Springer Spaniels that the disorder has an X-linked inheritance, in other breeds the disorder is autosomal recessive.
Details 2
Hypomyelination, also known as shaking puppy syndrome, effects the myelination of the nerves of the central nervous system. Symptoms can vary by breed, but primarily include a loss of precise muscle control manifesting as tremour, especially in the hind legs. In puppies, this can cause problems with feeding. Symptoms in puppies may worsen with excitement, and decrease when puppies are less active. In some breeds, this is reported to be progressive to fatality. In other breeds, this is reported as diminishing in severity with age. Age of onset, present from birth with puppies appearing normal until 1-2 weeks of age on average. Exact age of onset can vary. Between different dog breeds, inheritance may vary - it is suggested in Springer spaniels that the disorder has an X-linked inheritance, in other breeds the disorder is autosomal recessive.
Published
Pemberton, T.J., Choi, S., Mayer, J.A., Li, F.Y., Gokey, N., Svaren, J., Safra, N., Bannasch, D.L., Sullivan, K., Breuhaus, B., Patel, P.I., Duncan, I.D. : A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination. Glia 62:39-51, 2014. Pubmed reference: 24272703. DOI: 10.1002/glia.22582.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Breed-specific 1
Springer Spaniel
Breed-specific 1 Details
May have an X-linked inheritance
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
FNIP2
Mutation
c.880delA
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Hypomyelination
Gene Name
FNIP2
Mutation
c.880delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pemberton, T.J., Choi, S., Mayer, J.A., Li, F.Y., Gokey, N., Svaren, J., Safra, N., Bannasch, D.L., Sullivan, K., Breuhaus, B., Patel, P.I., Duncan, I.D. : A mutation in the canine gene encoding fol
Application in the Breed
Carriers may be bred to normal animals (N/h x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/h x N/h) nor of affected animals (h/h) .Tremors in pups, sometimes still in adulthood - l live normal, active lives.
Inheritance
AR
FCI Number
99
GTP Breed
Weimaraner/ Longhaired
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
FNIP2
Mutation
c.880delA
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
FNIP2
Mutation
c.880delA
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Hypomyelination
Gene Name
FNIP2
Mutation
c.880delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pemberton TJ, Choi S, Mayer JA, Li FY, Gokey N, Svaren J, Safra N, Bannasch DL, Sullivan K, Breuhaus B, Patel PI, Duncan ID. (2013) A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spin
Application in the Breed
Carriers may be bred to normal animals (N/h x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/h x N/h) nor of affected animals (h/h) .Tremors in pups, sometimes still in adulthood - l live normal, active lives.
Inheritance
AR
FCI Number
99
GTP Breed
Weimaraner/ Longhaired
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
FNIP2
Mutation
c.880delA
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
FNIP2
Mutation
c.880delA
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
FNIP2
Mutation
c.880delA
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Hypomyelination
Gene Name
FNIP2
Mutation
c.880delA
Nature of test
mutation test
FCI Number
99
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
FNIP2
Mutation
c.880delA
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
FNIP2
Mutation
c.880delA
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
FNIP2
Mutation
c.880delA
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
FNIP2
Mutation
c.880delA
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Hypomyelination
Gene Name
FNIP2
Mutation
c.880delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pemberton, T.J., Choi, S., Mayer, J.A., Li, F.Y., Gokey, N., Svaren, J., Safra, N., Bannasch, D.L., Sullivan, K., Breuhaus, B., Patel, P.I., Duncan, I.D. : A mutation in the canine gene encoding fol
Application in the Breed
Carriers may be bred to normal animals (N/h x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/h x N/h) nor of affected animals (h/h) .Tremors in pups, sometimes still in adulthood - l live normal, active lives.
Inheritance
AR
FCI Number
99
GTP Breed
Weimaraner/ Longhaired
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
FNIP2
Mutation
c.880delA