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H424

Musladin-Lueke Syndrome is a heritable disease specific to Beagles which causes tightened skin, stiff joints and a “ballerina”-like tip-toed gait.

10 working days

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Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Musladin-Lueke Syndrome is a heritable disease specific to Beagles which causes tightened skin, stiff joints and a “ballerina”-like tip-toed gait. Originally called Chinese Beagle Syndrome, it was renamed after prolific Beagle breeders Anton Musladin and Ada Lueke. It is a recessive disorder, caused by a defective ADAMTSL2 gene.

Caractéristiques cliniques

Affected dogs are short, with thick and tight skin, severely restricted joint mobility, and the tendency to walk on the very tips of their toes. They develop distinctive, unusually broad heads, with wide-set slanted eyes and creased ears. Heart disease may also be associated with the condition.

Additional Information

Références

Pubmed ID: 20862248

Omia ID: 1509

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