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H716

Dilute Coat Colour with Neurological Defects is a severe neurological disorder found in the Miniature Dachshund, resulting muscle weakness and lack of coordination as well as pale fur.

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Caractéristiques

Breeds

Gene

Chromosome

30

Mutation

c.4973_4974insA

Mode of Inheritance

Autosomique récessif

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Informations générales

Dilute Coat Colour with Neurological Defects is a severe neurological disorder found in the Miniature Dachshund, resulting muscle weakness and lack of coordination as well as pale fur. It is caused by a recessive mutation to the gene MYO5A.

Caractéristiques cliniques

Affected puppies are born with a visibly dilute coat colour. Within the first weeks of age, they will present with neurological symptoms: an inability to keep the head upright or to lie down normally (instead falling over onto one side), and decreased response to environmental stimuli. The severity of the symptoms typically necessitates euthanasia on humane grounds.

Additional Information

Références

Pubmed ID: 34680875

Year published: 2021

Omia ID: 1501

Omia variant ID:

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