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Neuroaxonal Dystrophy (Fetal-onset, FNAD)
Breed: Giant Schnauzer/ black
Generic Phene Data
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
Neuroaxonal Dystrophy (Fetal-onset, FNAD)
OMIA
715
Gene Name
MFN2
Mutation
c.1617_1619delGGA
Test Type
Genetic Disease/Disorder
Details
Neuroaxonal Dystrophy (Fetal-onset, FNAD) is a severe, lethal disease. Pups die shortly after birth, primarily from respiratory failure.
Details 2
Signs include fetal akinesia, scoliosis, arthrogryposis, cerebellar hypoplasia, pulmonary hypoplasia, respiratory failure, thinning of the patellar tendon, and spinal cord hypoplasia. The condition is lethal. (Fyfe et al., 2010)
Published
Fyfe, J.C., Al-Tamimi, R.A., Liu, J., Schaffer, A.A., Agarwala, R., Henthorn, P.S.: A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics 12:223-32, 2011. Pubmed reference: 21643798. Doi: 10.1007/s10048-011-0285-6.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
MFN2
Mutation
c.1617_1619delGGA
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
MFN2
Mutation
c.1617_1619delGGA
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
MFN2
Mutation
c.1617_1619delGGA
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
MFN2
Mutation
c.1617_1619delGGA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
MFN2
Mutation
c.1617_1619delGGA
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Seitelberger disease, FOND
Gene Name
MFN2
Mutation
c.1617_1619delGGA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Fyfe, J.C., Al-Tamimi, R.A., Liu, J., Schäffer, A.A., Agarwala, R., Henthorn, P.S.: A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics 12:223-32, 2011. Pubmed
Application in the Breed
Carriers may be bred to normal animals (N/fnad x N/N) . Offspring should be tested before breeding. No breeding two carriers (N/fnad x N/fnad). Pups die shortly after birth from respiratory failure
Inheritance
AR
FCI Number
181
GTP Breed
Giant Schnauzer/ Black
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Seitelberger disease, FOND
Gene Name
MFN2
Mutation
c.1617_1619delGGA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Fyfe, J.C., Al-Tamimi, R.A., Liu, J., Schäffer, A.A., Agarwala, R., Henthorn, P.S.: A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics 12:223-32, 2011. Pubmed
Application in the Breed
Carriers may be bred to normal animals (N/fnad x N/N) . Offspring should be tested before breeding. No breeding two carriers (N/fnad x N/fnad). Pups die shortly after birth from respiratory failure
Inheritance
AR
FCI Number
181
GTP Breed
Giant Schnauzer/ Black
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
MFN2
Mutation
c.1617_1619delGGA
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
MFN2
Mutation
c.1617_1619delGGA
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
MFN2
Mutation
c.1617_1619delGGA
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
MFN2
Mutation
c.1617_1619delGGA
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
MFN2
Mutation
c.1617_1619delGGA
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