Bull Mastiff — Mitochondrial fission encephalopathy; familial cerebellar ataxia with hydrocephalus (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_bull_mastiff_mitochondrial_fission_encephalopathy_familial_cerebellar_ata_dog category: companion-breed-health title: "Bull Mastiff — Mitochondrial fission encephalopathy; familial cerebellar ataxia with hydrocephalus (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/bull_mastiff_mitochondrial_fission_encephalopathy_familial_cerebellar_ata_4957.txt date_parsed: 2026-08-02 tokens_estimated: 588 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_bull_mastiff_mitochondrial_fission_encephalopathy_familial_cerebellar_ata_dog/01_companion_breed_health_bull_mastiff_mitochondrial_fission_encephalopathy_familial_cerebellar_ata_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: "Bull Mastiff — Mitochondrial fission encephalopathy; familial cerebellar ataxia with hydrocephalus (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002551/9615/" 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

Bull Mastiff — Mitochondrial fission encephalopathy; familial cerebellar ataxia with hydrocephalus (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: Bull Mastiff (Dog)
• Disorder: Mitochondrial fission encephalopathy; familial cerebellar ataxia with hydrocephalus
• Mode of inheritance: Autosomal recessive
• Clin feat: Carmichael et al. (1983) provided the first clinical and pathological description of the disease. The most striking findings were ataxia, visual impairment and changes in behaviour. Cristen et al. (2022) investigated two young Bullmastiffs showing similar clinical signs. They developed progressive gait and behavioural abnormalities with an onset at around 6 months of age. Neurological assessment was consistent with a multifocal brain disease. Magnetic resonance imaging of the brain showed intra-axial bilateral symmetrical focal lesions localised to the cerebellar nuclei. Based on the juvenile age, nature of neurological deficits and imaging findings, an inherited disorder of the brain was suspected.
• Defect: yes
• Pathology: Carmichael et al. (1983) reported Macroscopically there was a moderate to severe internal hydrocephalus with dilation of all ventricles and the cerebral aqueduct. In addition a yellow/brown discoloration of the cerebellar nuclei was noted. The salient microscopic abnormality, a spongy vacuolar change with gliosis, was present in three deep cerebellar nuclei ... and a small localised area in the base of the inferior colliculus. ... Gliosis was present with an increase in both microglia and astrocytes, many of which were hypertrophied. Axonal spheroids were frequently observed within the lesions. ... The lesions were all bilaterally symmetrical. Carmichael (1987) documented changes in the morphology of mitochondria of affected dogs by electron microscopy: Mitochondria were increased in number and many bizarre forms were present.brSuiter et al. (2024) report anbsp;9-month-old male Bullmastiff cross dog with progressive proprioceptive ataxia and behaviour changes that wasnbsp;homozygous for the known emMFF/em frameshift variant. Diagnostic imaging and histopathological findings in this dog differed from previously reported cases, suggesting a different selective regional vulnerability of the neurons.
• Prevalence: Cristen et al. (2022) reported that The carrier frequency in the unrelated control cohort [of Bullmastiffs] was 12/65 (18%).

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 388245644 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Cristen et al. (2022) reported that comparison of the whole-genome sequence of an affected Bullmastiff "with 782 control genomes of dogs from diverse breeds . . . revealed a private homozygous frameshift variant in the MFF gene in the affected dog, XM_038574000.1: c.471_475delinsCGCTCT, that is predicted to truncate 55% of the wild type MFF open reading frame, XP_038429928.1: p.(Glu158Alafs*14). H…

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.

• 1983. Familial cerebellar ataxia with hydrocephalus in bull mastiffs. Vet Rec — PubMed:PMID6857976 | DOI:10.1136/vr.112.15.354 — OMIA Phene_Article / Article
• 2001. Familial cerebellar ataxia with hydrocephalus in bull mastiffs. Vet Radiol Ultrasound — PubMed:PMID11405268 | DOI:10.1111/j.1740-8261.2001.tb00934.x — OMIA Phene_Article / Article
• 2022. Mitochondrial fission factor (MFF) frameshift variant in Bullmastiffs with mitochondrial fission encephalopathy. Anim Genet — PubMed:PMID36085405 | DOI:10.1111/age.13263 — OMIA Phene_Article / Article
• 1987. Familial cerebellar ataxia in the Bull Mastiff. Master thesis, University of Glasgow Veterinary School — OMIA Phene_Article / Article
• 2024. Novel MRI and histopathological findings in a young Bullmastiff cross dog with mitochondrial fission encephalopathy. Vet Radiol Ultrasound — PubMed:PMID38706372 | DOI:10.1111/vru.13342 — 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:614785 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:617086 (type: trait) — 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."