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.
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.
This test does not identify the variant responsible for LEMP in Leonbergers.
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 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.
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.
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) 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.
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 (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.
This test does not detect the MTM1 mutation that causes a similar disease in Labrador Retrievers.
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.