Weimaraner — Congenital mirror movement disorder 1 (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_weimaraner_congenital_mirror_movement_disorder_1_dog category: companion-breed-health title: "Weimaraner — Congenital mirror movement disorder 1 (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/weimaraner_congenital_mirror_movement_disorder_1_6432.txt date_parsed: 2026-08-02 tokens_estimated: 443 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_weimaraner_congenital_mirror_movement_disorder_1_dog/01_companion_breed_health_weimaraner_congenital_mirror_movement_disorder_1_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: "Weimaraner — Congenital mirror movement disorder 1 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002353/9615/" 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

Weimaraner — Congenital mirror movement disorder 1 (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: Weimaraner (Dog)
• Disorder: Congenital mirror movement disorder 1
• Mode of inheritance: Autosomal recessive
• Clin feat: Schwarz et al. (2025): Three of 11 puppies in a litter of Weimaraner dogs exhibited an abnormal gait characterized by synchronized saltatorial locomotion. ... The initial presentation included tetraparesis and ataxia on all four limbs with the pelvic limbs being more severely affected. Difficulty in rising on the pelvic limbs and stumbling on the thoracic limbs were observed. The pelvic limb gait showed a bunny-hopping appearance with synchronized saltatorial locomotion. Saltatorial gait was also present on the thoracic limbs. Behavior and mentation were normal and appeared similar between affected and unaffected dogs. The affected puppies from Schwarz et al. 2025 were euthanized at 8 weeks of age and further development of their gait abnormalities was not investigated.bremEfnb3sup-/-/sup/em knockout mice exhibit a similar abnormal gait phenotype characterized by bunny-hopping and saltatorial locomotion (Kullander et al. 2001; Yokoyama et a. 2001).
• Defect: yes
• Pathology: Schwarz et al. (2025): No pathological changes were observed in any of the three affected Weimaraner puppies during a full-body postmortem examination. Systematic histological analyses of the brains, spinal cords, peripheral nerves, muscles, and all other organ systems with any of the stains used failed to identify any abnormal composition, aberrant structures, or any other lesions.brIn emEfnb3sup-/-/sup/em mice, subtle neuroantomical changes and motor neurons crossing the spinal midline have been demonstrated (Kullander et al. 2001; Yokoyama et a. 2001).nbsp;

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 398299021 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Schwarz et al. (2025) "used linkage and autozygosity mapping followed by whole-genome sequencing of 3 affected dogs and 1489 control dogs" and identified "a 2-bp duplication in&nbsp;<em>EFNB3</em> encoding ephrin-B3, a transmembrane protein important for axon guidance and spinal midline barrier formation during neurodevelopment. The identified variant, XM_038536724.1:c.643_644dup, is predicted to …

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.

• 2021. Natural loss of function of ephrin-B3 shapes spinal flight circuitry in birds. Sci Adv — PubMed:PMID34117069 | DOI:10.1126/sciadv.abg5968 — OMIA Phene_Article / Article
• 2025. EFNB3 frameshift variant in Weimaraner dogs with a condition resembling a congenital mirror movement disorder. Mov Disord — PubMed:PMID40401490 | DOI:10.1002/mds.30243 — OMIA Phene_Article / Article
• 2001. Ephrin-B3 is the midline barrier that prevents corticospinal tract axons from recrossing, allowing for unilateral motor control. Genes Dev — PubMed:PMID11297511 | DOI:10.1101/gad.868901 — OMIA Phene_Article / Article
• 2001. Forward signaling mediated by ephrin-B3 prevents contralateral corticospinal axons from recrossing the spinal cord midline. Neuron — PubMed:PMID11182083 | DOI:10.1016/s0896-6273(01)00182-9 — OMIA Phene_Article / Article
• 2025. Comment on Schwarz et al. "EFNB3 frameshift variant in Weimaraner dogs with a condition resembling a congenital mirror movement disorder". Mov Disord — PubMed:PMID40772461 | DOI:10.1002/mds.70001 — OMIA Phene_Article / Article
• 2025. Reply to: "EFNB3 frameshift variant in Weimaraner dogs with a condition resembling a congenital mirror movement disorder". Mov Disord — PubMed:PMID40772476 | DOI:10.1002/mds.70000 — OMIA Phene_Article / Article
• 2025. Germline variant call accuracy in whole genome sequence data from canine formalin-fixed paraffin-embedded tissue samples. Genes (Basel) — PubMed:PMID41300821 | DOI:10.3390/genes16111371 — OMIA Phene_Article / Article

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."