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Spondylocostal Dysostosis (Comma Defect) is a severe skeletal growth disorder that results in a shortened body and an abnormal ribs and spine.
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Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 5 |
| Mutation | c.126delG |
| Mode of Inheritance | Autosomal Recessive Lethal |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | SCD |
Generell informasjon
Spondylocostal Dysostosis (Comma Defect) is a severe skeletal growth disorder that results in a shortened body and an abnormal ribs and spine. This variant of the disorder, also called Comma Defect due to the abnormal body shape it causes in affected puppies, occurs in the Standard Schnauzer and Miniature Schnauzer. Comma Defect is lethal, resulting in stillbirth or death shortly after the puppy’s birth. It is caused by a recessive mutation to the gene HES7.
Kliniske egenskaper
Affected puppies are stillborn or die within hours of birth. They have a reduced body length with disproportionately small hindquarters – described as a comma-like body shape – and may present with additional symptoms such as umbilical hernias or cleft palate.
Tilleggsinformasjon
Referanser
Pubmed ID: 25659135
Year published: 2015
Omia ID: 1944
Omia variant ID: 535