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Breeds Affected: Rottweiler

Samples Accepted: Blood, Buccal Swabs

Disease Information: The first symptoms of X-linked Myotubular Myopathy (XLMTM) in the Rottweiler are usually seen between 6 – 8 weeks of age.  These include weakness and poor muscle development.  The disease progresses quickly.  When standing pups stand in a hunched position; they have trouble raising their heads.  They die or are humanely euthanized usually before 4 months of age.

Inheritance Information: XLMTM is X-linked recessive, because the MTM1 gene is located on the X-chromosome. Male animals with the mutation (which have only one X chromosome) are affected. Females may have one normal and one mutated version and be asymptomatic carriers.

The possible genotypes are:

XX     This dog is a normal female.

XXXLMTM    This dog is a carrier female.  She is clinically normal, but will pass the mutation (XXLMTM) to 50% of her offspring.  When bred to a normal male, she can have pups of all four genotypes: normal female (XX), carrier female (XXXLMTM), normal male (XY), and affected male (XXLMTMY).

XY      This dog is a normal male.

XXLMTMY    This dog is an affected male.


– Female offspring of a carrier female should be genetically tested to determine if they are normal or carriers (XX or XXXLMTM).

– Carrier females (XXXLMTM) should not be bred, because affected males can be produced.

Test Information: This mutation test identifies a single base change in exon 11 of the MTM1 gene.

Shelton, G.D., Rider, B.E., Child, G., Tzannes, S., Guo, L.T., Moghadaszadeh, B., Troiano, E.C., Haase, B., Wade, C.M., Beggs, A.H.: X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene. Skelet Muscle 5:1, 2015. Pubmed reference: 25664165. DOI: 10.1186/s13395-014-0025-3

Further information is available at the Online Mendelian Inheritance in Animals website.

Test #: D339

Cost: 35 € (excl. VAT)

Time: 7-10 days

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