{"topic_id":"companion_breed_health_miniature_american_shepherd_omia6067_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_miniature_american_shepherd_omia6067_dog\ncategory: companion-breed-health\ntitle: \"Miniature American Shepherd — Neuroaxonal dystrophy, RNF170-related (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/miniature_american_shepherd_omia6067_6067.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 493\nverification:\n method: substring_match\n claims: 6\n passed: 6\n date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_miniature_american_shepherd_omia6067_dog/01_companion_breed_health_miniature_american_shepherd_omia6067_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n title: \"Miniature American Shepherd — Neuroaxonal dystrophy, RNF170-related (hereditary; OMIA-verified breed predisposition)\"\n url: \"https://omia.org/OMIA002876/9615/\"\n retrieved: \"2026-08-02\"\n ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n needs_review: false\n\n\n# Miniature American Shepherd — Neuroaxonal dystrophy, RNF170-related (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Miniature American Shepherd (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Probably autosomal recessive`\n- `Clin feat: Cook et al. (2024) reported that affected Miniature American Shepherd dogs were typically young adults ... [displaying] varying degrees of hind limb weakness and ataxia, together with scuffing of the nails/dragging of digits. Kyphosis and a pacing/ambling gait were commonly reported. A cerebellar gait was also noted in several dogs. A few dogs had a reported change in behavior. Seizures were only reported in one dog ... .nbsp;Overall, in the present cohort of MAS dogs from a wide international genetic pool, the onset of clinical signs was typically around the second year of life, although this varied somewhat between dogs; this variability, to an extent, depended on the astuteness of the owner's observations. Slowly progressive T3-L3 myelopathy signs were observed as the most common clinical presentation, with possible cervical, cerebellar, or forebrain signs also developing. Neither pain nor vestibular signs were reported in affected dogs. Gait abnormalities were always more obvious during the walk compared to faster gaits. The disease has a very slow progression and affected dogs may reach more than ten years of age.nbsp;`\n- `Defect: yes`\n- `Pathology: Cook et al. (2024) reported histopathology from two affected Miniature American Shepherd dogs: In both necropsied cases ... the evaluation of the brain and spinal cord showed widespread and bilateral neuroaxonal degeneration throughout the gray and white matter with the lateral cuneate nuclei in the brainstem being most severely affected ... . The neuroaxonal degeneration consisted of variable numbers of large, swollen, and hypereosinophilic axons (spheroids), dilated myelin sheaths, degenerated or dead neurons, and mixed gliosis. ... No other significant changes were seen in any of the organs evaluated.`\n## Associated gene(s)\nDerived 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/.txt source file.\n- Gene: Entrez Gene ID 398298925 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Cook et al. (2024) investigated neuroaxonal dystrophy in Miniature American Shepherd dogs and conducted \"a genome-wide association study and autozygosity mapping approach, followed by whole-genome sequencing. ... The underlying genetic cause was identified as a 1-bp (base pair) deletion in RNF170 encoding ring finger protein 170, which perfectly segregates in an autosomal recessive p…\n\n## Evidence (references)\nDerived 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/.txt source file.\n- 2024. Canine RNF170 single base deletion in a naturally occurring model for human neuroaxonal dystrophy. Mov Disord — PubMed:PMID39177409 | DOI:10.1002/mds.29977 — OMIA Phene_Article / Article\n- 2024. Correction to \"Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy\". Mov Disord — PubMed:PMID39648631 | DOI:10.1002/mds.30079 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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/.txt source file.\n- OMIM:614649 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:608984 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:619686 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n method: derived_from_dataset\n source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n 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.\"\n","sources":["companion-breed-health — Miniature American Shepherd — Neuroaxonal dystrophy, RNF170-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Miniature American Shepherd — Neuroaxonal dystrophy, RNF170-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/39177409/","retrieved":"","ref":"PMID 39177409","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":941,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}