RALGAPA1 Deletion in Belgian Shepherd Dogs with Cerebellar Ataxia.
Several genetically distinct forms of cerebellar ataxia exist in Belgian shepherd dogs. We investigated a litter in which two puppies developed cerebellar ataxia. The clinical signs stabilized at around six weeks of age, but remained visible into adulthood. Combined linkage and homozygosity mapping delineated a 5.5 Mb critical interval. The comparison of whole-genome sequence data of one affected dog to 929 control genomes revealed a private homozygous ~4.8 kb deletion in the critical interval, Chr8:14,468,376_14,473,136del4761. The deletion comprises exon 35 of the RALGAPA1 gene, XM_038544497... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2023 |
Verlag/Hrsg.: |
MDPI
Molecular Diversity Preservation International |
Schlagwörter: | 570 Life sciences / biology / 590 Animals (Zoology) / 610 Medicine & health |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26527763 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://boris.unibe.ch/185771/1/genes-14-01520-v3.pdf |