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Centronuclear Myopathy
Breed: Australian Cobberdog
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 for these breeds
General
Disease Name
Centronuclear Myopathy
OMIA
1374
Gene Name
PTPLA
Gene Name 2
HACD1
Mutation
c.191_192ins236b
Test Type
Genetic Disease/Disorder
Details
Centronuclear myopathy (CNM) is a hereditary myopathy. This condition is also known as: type II muscle fiber deficiency, autosomal recessive muscular dystrophy and hereditary myopathy. The disease affects males and females equally, and symptoms include loss of muscle tone and control, exercise intolerance, weakness, irregular gait, and loss of patellar reflex. Age of onset is 2-5 months. The carrier and affected population world-wide for the labrador retriever breed is considered to be moderately high (10-16% estimates) meaning that it is recommended that owners and breeders test carefully, and include some carriers + clear tested dogs in their breeding plans to maintain genetic diversity and a balance of other desireable traits.
Details 2
Centronuclear myopathy (CNM) is a hereditary myopathy resulting from a mutation in the protein tyrosine phosphatase-like member A gene (PTPLA). This condition is also known as: type II muscle fiber deficiency, autosomal recessive muscular dystrophy and hereditary myopathy. The disease affects males and females equally, and symptoms include loss of muscle tone and control, exercise intolerance, weakness, irregular gait, and loss of patellar reflex. Age of onset is 2-5 months.
Published
Pele, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet 14:1417-27, 2005. Pubmed reference: 15829503. Doi: 10.1093/hmg/ddi151.
Published 2
Maurer, M., Mary, J., Guillaud, L., Fender, M., Pele, M., Bilzer, T., Olby, N., Penderis, J., Shelton, G.D., Panthier, J.J., Thibaud, J.L., Barthelemy, I., Aubin-Houzelstein, G., Blot, S., Hitte, C., Tiret, L.: Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. PLoS One 7:e46408, 2012. Pubmed reference: 23071563. Doi: 10.1371/journal.pone.0046408.
Body/System/Process
Muscular
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Labrador Retriever
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pel??, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopa
Application in the Breed
Carriers may be bred to normal animals (N/cnm x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cnm x N/cnm) nor of affected animals (cnm/cnm). Muscle wasting, weakness, irregular gait, and loss of patellar reflex
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
-27
GTP Breed
Australian Cobberdog
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
FCI Number
-27
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pel??, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopa
Application in the Breed
Carriers may be bred to normal animals (N/cnm x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cnm x N/cnm) nor of affected animals (cnm/cnm). Muscle wasting, weakness, irregular gait, and loss of patellar reflex
Inheritance
AR
FCI Number
-27
GTP Breed
Australian Cobberdog
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
FCI Number
-27
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b
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