UC Davis School of Veterinary Medicine Veterinary Genetics Laboratory

Rottweiler Health Panel

Tests Offered:

DM | LEMP | NAD | POANV | XLMTM

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Allow 5-10 business days for results.

Degenerative Myelopathy

Introduction

Degenerative myelopathy (DM) is an inherited neurologic disorder of dogs similar to Lou Gehrig’s disease in humans and results from a mutation (c.118G>A) in the SOD1 gene. Affected dogs usually present clinical signs of disease in adulthood (at least 8 years of age) with gradual muscle wasting and loss of coordination that typically begins in the hind limbs because of nerve degeneration. Disease progression continues until the dog is unable to walk. Small breed dogs tend to progress more slowly. In late stages of the disease, dogs may become incontinent and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of signs. The disease is inherited in an autosomal recessive fashion with incomplete penetrance. Thus, two copies of the SOD1 mutation (DM/DM) confer increased risk for DM but not all DM/DM dogs across breeds will develop the disease. The variable presentation between breeds suggests that other genetic and environmental factors play a role in disease expression. There is ongoing research to identify other genetic factors that modify risk for DM in different breeds. In addition, similar disease presentation is observed in some animals lacking the SOD1 mutation. Breeding two carriers of the SOD1 mutation together is predicted to produce 25% pups that may develop DM.

The VGL offers a genetic test for the SOD1 c.118G>A mutation, reported here as DM. Genetic screening helps breeders establish the genetic status of breeding stock and select mating pairs appropriately to reduce the risk of producing DM-affected offspring.

Testing is appropriate for: many breeds

The Degenerative Myelopathy (DM) test is a patented test. The Veterinary Genetics Laboratory is authorized to offer the DM test to residents of the United States, Canada and Australia.

Results reported as:

N/N Normal - no copies of the DM mutation
N/DM 1 copy of the DM mutation
DM/DM 2 copies of the DM mutation; dog may develop DM disease

References:

Awano T, Johnson GS, Wade CM, Katz ML, Johnson GC, Taylor JF, Perloski M, Biagi T, Baranowska I, Long S, March PA, Olby NJ, Shelton GD, Khan S, O'Brien DP, Lindblad-Toh K, Coates JR. Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2009 Feb 24; 106(8):2794-9. [PubMed: 19188595]

Coates JR, March PA, Oglesbee M, Ruaux CG, Olby NJ, Berghaus RD, O'Brien DP, Keating JH, Johnson GS, Williams DA. Clinical characterization of a familial degenerative myelopathy in Pembroke Welsh Corgi dogs. J Vet Intern Med. 2007 Nov-Dec; 21(6):1323-31. [PubMed: 18196743]

Shelton GD, Johnson GC, O’Brien DP, Katz ML, Pesayco JP, Chang BJ, Mizisin AP, Coates JR. Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh Corgis and Boxers. J Neurol Sci. 2012 Jul 15;318(1-2):55-64. [PubMed: 22542607]

Zeng R, Coates JR, Johnson GC, Hansen L, Awano T, Kolicheski A, Ivansson E, Perloski M, Lindblad-Toh K, O'Brien DP, Guo J, Katz ML, Johnson GS. Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy. J Vet Intern Med. 2014, 28(2):515-521.

 

Leukoencephalomyelopathy (LEMP)

Introduction

Leukoencephalomyelopathy (LEMP) is a neurodegenerative disorder of the central nervous system. LEMP is characterized by a generalized, progressive loss of balance with increasing immobility. Signs of LEMP often appear prior to 1 year of age, typically presenting as gait abnormalities including dragging of paws and knuckling.  The disease is progressive, moving from front to back limbs but is not associated with pain.


LEMP in Rottweiler dogs results from an insertion of one base in the NAPEPLD gene (c.345_346insC), reported here as LEMP. The disease is inherited in an autosomal recessive fashion, which means that males and females are equally affected and that two copies of the defective gene are needed to cause LEMP. Dogs with one normal and one affected gene (carriers) are normal and show no signs of the disease. This variant is also present in Great Danes therefore testing for this breed is advisable.


The Veterinary Genetics Laboratory offers a genetic test for the mutation associated with LEMP in Rottweiler and Great Dane breeds. Test results assist veterinarians with diagnosis of LEMP and help breeders identify carriers among breeding stock to avoid producing affected dogs. Matings between carriers are expected to produce 25% of affected puppies.

Testing is appropriate for: Rottweilers, Great Danes

This test does not identify the variant responsible for LEMP in Leonbergers.

Results reported as:

N/N

Normal - no copies of the LEMP mutation

N/LEMP

Carrier - 1 copy of the LEMP mutation

LEMP/LEMP

Affected - 2 copies of the LEMP mutation

 

References:

Minor KM, Letko A, Becker D, Drögemüller M, Mandigers PJJ, Bellekom SR, Leegwater PAJ, Stassen QEM, Putschbach K, Fischer A, Flegel T, Matiasek K, Ekenstedt KJ, Furrow E, Patterson EE, Platt SR, Kelly PA, Cassidy JP, Shelton GD, Lucot K, Bannasch DL, Martineau H, Muir CF, Priestnall SL, Henke D, Oevermann A, Jagannathan V, Mickelson JR, Drögemüller C.  (2018). Canine NAPEPLD-associated models of human myelin disorders. Sci Rep 8:5818.

 

Neuroaxonal Dystrophy (NAD) in Rottweilers

Introduction

Neuroaxonal dystrophy (NAD) in Rottweiler dogs is a degenerative neurological disease. Signs are first apparent in young adults as uncoordinated movement (ataxia) and overstepping/high-stepping an intended location (hypermetria). Additional signs may include tremors and involuntary eye movements (nystagmus).
NAD in Rottweilers results from a mutation in VSP11 (c.2504A>G), reported here as NADR. The disease is inherited in an autosomal recessive fashion, which means that males and females are equally affected and that two copies of the defective gene are needed to cause NAD. Dogs with one normal and one affected gene (carriers) are normal and show no signs of the disease.
The Veterinary Genetics Laboratory offers a genetic test for NAD in Rottweiler dogs. Test results assist veterinarians with diagnosis of NAD and help breeders identify carriers among breeding stock to avoid producing affected dogs. Matings between carriers are expected to produce 25% of affected puppies.

Testing is appropriate for: Rottweilers

This test does not identify the causative NAD variants in other breeds. It is specific for the VSP11 variant causing NAD in the Rottweiler breed.

Results reported as:

N/N

Normal - no copies of the Rottweiler NAD mutation

NADR/N

Carrier - 1 copy of the Rottweiler NAD mutation

NADR/NADR

Affected - 2 copies of the Rottweiler NAD mutation

 

References:

Lucot KL, Dickinson PJ, Finno CF, Mansour TA, Letko A, Minor KM, Mickelson JR, Drögemüller C, Brown CT,  and Bannasch DL. (2018) A missense mutation in the Vacuolar Protein Sorting 11 (VPS11) gene is associated with Neuroaxonal Dystrophy in Rottweiler dogs. G3: 8(8): 2773-2780.

 

Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation (POANV, JLPP)
Introduction

Polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV) is a hereditary neurologic defect that occurs in Black Russian Terriers and Rottweilers. This disorder has been previously described as juvenile-onset, laryngeal paralysis and polyneuropathy (JLPP) in Black Russian Terriers and neuronal vacuolation and spinocerebellar degeneration (NVSD) in Rottweilers. Signs of disease common to both breeds are early onset (around 3 months of age) of laryngeal paralysis (failure of the voice box to function), microphthalmia (small eyes), congenital cataracts (clouding of the lens of the eye) and axonal peripheral neuropathy (damage of peripheral nerves in muscle, skin) that presents as pelvic limb weakness and motor deficits. The disease is progressive and affected animals either die or are euthanized for steadily decreasing quality of life by 1 year of age.

POANV results from a nucleotide deletion (c.743delC) in the RAB3GAP1 gene (c.743delC), reported here as P. The disease is inherited in an autosomal recessive fashion, which means that males and females are equally affected and that two copies of the defective gene are needed to cause POANV. Dogs with one normal and one affected gene (carriers) are normal and show no sign of the disease.

The VGL offers a genetic test for POANV. Test results assist veterinarians with diagnosis of POANV and help breeders to identify carriers to avoid breeding these together. Mating of carriers is expected to produce 25% of affected puppies.

Testing is appropriate for:  Black Russian Terriers and Rottweilers.

Results reported as:

N/N

Normal - no copies of the POANV mutation

N/P

Carrier - 1 copy of the POANV mutation; dog is normal

P/P

Affected - 2 copies of the POANV mutation; dog will develop polyneuropathy

References:

T. Mhlanga-Mutangadura, G.S. Johnson, R.D. Schnabel, J. F. Taylor, G.C. Johnson, M.L. Katz, G.D. Sheltone, T.E. Lever, E.  Giuliano, N. Granger, J. Shomper, D. P. O'Brien. (2016) A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiology of Disease 86:75-85.

T. Mhlanga-Mutangadura, G.S. Johnson, A. Ashwini, G.D. Shelton, S.A. Winnogle, G.C. Johnson, K. Kuroki, and D.P. O’Brien. (2016) A Homozygous RAB3GAP1;c.743delC mutation in Rottweilers with neuronal vacuolation and spinocerebellar degeneration. J. Vet. Int. Med. 30(3):813-818.

X-linked Myotubular Myopathy in Rottweilers

Introduction

X-linked myotubular myopathy (XLMTM) is an inherited muscle disease that affects Rottweilers. The disease is caused by a defect in the myotubularin protein, a component of muscle cell membranes, which ultimately inhibits their ability to contract. Puppies appear clinically normal at birth but muscle atrophy is often apparent by 7 weeks of age.  Affected puppies often appear noticeably smaller than littermates and may have problems with coordination and mobility. Within weeks, affected puppies may have difficulty in holding their head up and may an exhibit an inability to stand or may collapse after exertion. The disease is severe and progressive with most affected dogs being euthanized before 6 months of age. 


The Rottweiler XLMTM causal missense mutation (c.1151A>C), reported here as MTMR, occurs in exon 11 of the myotubular myopathy 1 (MTM1) gene. The disease is inherited in an X-linked recessive fashion. Females with two defective copies will show disease. Clinical signs are absent in females with one normal and one affected gene (carriers). Males have only one X chromosome. Males that inherit the affected allele will show disease. If the inherited allele is normal, males do not have the disease.


The Veterinary Genetics Laboratory offers a genetic test for XLMTM in Rottweilers. Test results assist veterinarians with diagnosis of myotubular myopathy and help breeders identify carrier females to avoid mating pairs that can produce affected dogs. When a carrier female is bred to a normal male, all female puppies will be normal but 50% of them will be carriers.  Among male puppies from this type of cross, 50% will be normal and 50% will be affected.

Testing is appropriate for: Rottweilers

This test does not detect the MTM1 mutation that causes a similar disease in Labrador Retrievers.  

Results reported as:

N/N

Normal female - no copies of the Rottweiler MTM1 mutation

MTMR/N

Carrier female - 1 copy of the Rottweiler MTM1 mutation

MTMR/MTMR

Affected female - 2 copies of the Rottweiler MTM1 mutation

N

Normal male - no copy of the Rottweiler MTM1 mutation

MTMR

Affected male - 1 copy of the Rottweiler MTM1 mutation

 

 

 

 

References:

Shelton GD, Rider BE, Child G, Tzannes S, Guo LT, Moghadaszadeh B, Troiano EC, Haase B, Wade CM, Beggs AH. (2015) X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene. Skelet Muscle 5:1.

 

 

 
Veterinary Genetics Laboratory Tel 530-752-2211 Email VGL