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Reverse query / human → dog

autosomal recessive spinocerebellar ataxia 14.

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

Which dogs are a natural model of this human disease. Each row is a distinct gene pathway with a canine model, ranked by evidence strength. We assert the canine disease models the human one (gene-level), never that a dog allele equals a human variant.

1 model pathway 1 OMIA-anchored MONDO:0014159 ↗ OMIM 600224 ↗
Canine model pathway Evidence Ortholog Human anchor Canine variant · assembly
SPTBN2 → SPTBN2 OMIA model-of OMIA-anchored one_to_one gene-level (no single variant)
The boundary of this model. The rows above are the characterized pathways, human genes of this disease with a canine model in our substrate. We do not hold a GenCC established-gene panel for this specific Mondo id, so the full gene landscape is not enumerated here; we show the canine models we hold and do not imply full coverage.
A candidate model is a computational hypothesis (gene-level model-of), never a confirmed model; confirmation is DNA plus phenotype, in the lab. Canine coordinates are on UU_Cfam_GSD_1.0 and carry their assembly (no cross-assembly comparison without a scored liftover). Sources: OMIA, ClinVar (Landrum 2018), Ensembl Compara orthology, Mondo. Ranked by evidence strength within this human disease.