Disease overview

Coat colour dilution and neurological defects can be due to a genetic mutation in the MYO5A gene, which is important for the function of specific cells in skin and nerves. This genetic disease presents at birth.

Gene name

MYO5A

Inheritance

Autosomal recessive

Signs and symptoms

Affected puppies will present with dilute coat colors at birth. Neurological deficits include the inability to remain in the upright position, especially the head, which may not present right away (due to the behavior of puppies).

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Genetic testing is necessary to determine an underlying genetic cause.

Breeds at higher risk

Miniature Dachshund

Citations

Christen M, de le Roi M, Jagannathan V, Becker K, Leeb T. MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1. Genes (Basel). 2021 Sep 23;12(10):1479. doi: 10.3390/genes12101479. PMID: 34680875; PMCID: PMC8535926.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.