Schnauzer-Beagle Cross — Fetal-onset neuroaxonal dystrophy (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_schnauzer_beagle_cross_fetal_onset_neuroaxonal_dystrophy_dog category: companion-breed-health title: "Schnauzer-Beagle Cross — Fetal-onset neuroaxonal dystrophy (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/schnauzer_beagle_cross_fetal_onset_neuroaxonal_dystrophy_4120.txt date_parsed: 2026-08-02 tokens_estimated: 585 verification: method: substring_match claims: 9 passed: 9 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_schnauzer_beagle_cross_fetal_onset_neuroaxonal_dystrophy_dog/01_companion_breed_health_schnauzer_beagle_cross_fetal_onset_neuroaxonal_dystrophy_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: "Schnauzer-Beagle Cross — Fetal-onset neuroaxonal dystrophy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002153/9615/" 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

Schnauzer-Beagle Cross — Fetal-onset neuroaxonal dystrophy (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: Schnauzer-Beagle Cross (Dog)
• Disorder: Fetal-onset neuroaxonal dystrophy
• Mode of inheritance: Autosomal recessive
• Summary: Neuroaxonal dystrophy is a disorder of CNS development with motor neuron degeneration characterized by fetal-onset neuromuscular dysfunction causing joint contracture and respiratory failure at birth. Affected animals present with scoliosis, arthrogryposis, cerebellar, pulmonary, and spinal cord hypoplasia, respiratory failure, and thinning of the patellar tendon. The condition is lethal, and was first observed in a colony of laboratory dogs following the mating of a purebred Giant Schnauzer with a Beagle. Edited by John C. Fyfe, D.V.M., Ph.D.
• Clin feat: Signs include fetal akinesia, scoliosis, arthrogryposis, cerebellar hypoplasia, pulmonary hypoplasia, respiratory failure, thinning of the patellar tendon, and spinal cord hypoplasia. The condition is lethal (Fyfe et al., 2010).
• Defect: yes
• Pathology: Mitofusin 2 is a multifunctional, membrane bound GTPase found in mitochondria and endoplasmic reticulum. It acts with mitofusin 1 to mediate fusion of the outer mitochondrial membrane. Alone, it mediates mitochondrial-ER contacts, autophagosome genesis, and mitochondrial transport in axons. Affected dogs have very low levels of MFN2 in the brainstem, cerebrum, kidneys, and cultured fibroblasts. The defects are tissue-specific (Fyfe et al., 2011). Histopathologic changes in affected dogs include swollen axons and spheroids in brainstem and spinal cord tracts, patchy loss of Purkinje cells, reduced cerebellar foliation, and multifocal thinning of the external granular cell layer. Loss of neurons in the deep cerebellar nuclei, spheroids and loss of myelinated axons in spinal roots and peripheral nerves, increased apoptosis of skeletal muscle myocytes, and fibro-fatty connective tissue proliferation around joints can also be seen (Fyfe et al., 2010).
• Prevalence: The condition has only been observed in a colony of laboratory dogs following the mating of a purebred Giant Schnauzer with a Beagle (Fyfe et al., 2010).
• Control: Breeding of known carriers is not recommended. Siblings of affected dogs and dogs that have produced affected puppies should be tested for the causative mutation.

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 3485115 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: The likely causal variant is a 3 bp deletion in exon 14 of MFN2, the gene that codes for mitofusin 2. This c.1617_1619delGGA deletion is predicted to lead to the loss of a glutamate residue on the protein level, p.Q539del (Fyfe et al., 2011).

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.

• 2010. Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. J Comp Neurol — PubMed:PMID20653033 | DOI:10.1002/cne.22423 — OMIA Phene_Article / Article
• 2011. A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics — PubMed:PMID21643798 | DOI:10.1007/s10048-011-0285-6 — 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:601152 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:617087 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:609260 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:608507 (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."