White Swiss Shepherd Dog — Cerebellar hypoplasia (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_white_swiss_shepherd_dog_cerebellar_hypoplasia_dog category: companion-breed-health title: "White Swiss Shepherd Dog — Cerebellar hypoplasia (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/white_swiss_shepherd_dog_cerebellar_hypoplasia_3610.txt date_parsed: 2026-08-02 tokens_estimated: 484 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_white_swiss_shepherd_dog_cerebellar_hypoplasia_dog/01_companion_breed_health_white_swiss_shepherd_dog_cerebellar_hypoplasia_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "White Swiss Shepherd Dog — Cerebellar hypoplasia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001867/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

White Swiss Shepherd Dog — Cerebellar hypoplasia (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: White Swiss Shepherd Dog (Dog)
• Disorder: Cerebellar hypoplasia
• Mode of inheritance: Probably autosomal recessive
• Summary: References to other forms of lissencephaly were previously listed here but have been moved to OMIA:002771-9615 : Lissencephaly, generic in Canis lupus familiaris [22/09/2023]
• Clin feat: Littlejohn et al. (2023): Two affected White Swiss Shepherd puppies were born clinically normal ... . Both [cerebellar hypoplasia] CH-affected puppies failed to gain weight and developed progressive ataxia from around 2 weeks of age. The puppies had difficulty standing, could not walk in a straight line, had a good suckle reflex but had difficulty latching on to the teat. The puppies had no spontaneous or positional nystagmus, had a normal pupillary light reflex, lacked a menace reflex (normal for age) and segmental spinal reflexes were intact. ... the puppies were euthanised at 4 weeks of age ... .
• Defect: yes
• Pathology: Littlejohn et al. (2023): Autopsy [of two affected White Swiss Shepherd puppies] revealed anatomical abnormalities in the brains of both affected puppies, with both animals showing severe CH with lissencephaly ... and moderate internal hydrocephalus with distended lateral and fourth ventricles. ... In both puppies the cerebellum lacked cerebellar folia. ... Microscopically, the normal layered structure ... of the cerebellum was disorganised ... and the molecular and granular layers were thin, with the granular layer of irregular thickness ... and often forming islands of cells ... . Purkinje cells were scattered throughout all layers ... . Vascular structures were prominent. The cerebrum lacked sulci and gyri (agyria) and the white matter was thinned. The cerebral cortex was disorganised with increased thickness of the cortical laminae and neuronal cell bodies that were not vertically aligned.

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: Entrez Gene ID 388249897 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Littlejohn et al. (2023) "describe a genetic investigation of cerebellar hypoplasia in White Swiss Shepherd dogs, where two affected puppies were identified from a litter with a recent common ancestor on both sides of their pedigree. Whole genome sequencing was conducted for 10 dogs in this family ... [and identified] a frameshift-deletion of the Reelin (RELN) gene (p.Val947*)."

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 2023. A frameshift-deletion mutation in Reelin causes cerebellar hypoplasia in White Swiss Shepherd dogs. Anim Genet — PubMed:PMID37334487 | DOI:10.1111/age.13336 — OMIA Phene_Article / Article
• 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:257320 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:600514 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."