--- license: permission_granted topic_id: companion_breed_health_chihuahua_omia3776_dog category: companion-breed-health title: "Chihuahua — Neuronal ceroid lipofuscinosis, 7 (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/chihuahua_omia3776_3776.txt date_parsed: 2026-08-02 tokens_estimated: 465 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_chihuahua_omia3776_dog/01_companion_breed_health_chihuahua_omia3776_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: "Chihuahua — Neuronal ceroid lipofuscinosis, 7 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001962/9615/" 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
Chihuahua — Neuronal ceroid lipofuscinosis, 7 (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: Chihuahua (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Guo et al. (2015): progressive neurological decline that included blindness, anxiety, and cognitive impairment. A diagnosis of neuronal ceroid lipofuscinosis was made based on neurological signs, magnetic resonance imaging of the brain, and fluorescence microscopic and electron microscopic examination of brain sections. Similar clinical signs were also observed in Chihuahuas (Faller et al. 2016).brRietmann et al. (2024) investigated two Small Swiss Hound littermates that showed progressive ataxia and loss of cognitive functions and vision starting around the age of 12 months. Both dogs had to be euthanized a few months after the onset of disease owing to the severity of their clinical signs.Defect: yesPathology: Both the cerebellum and the cerebral cortex exhibited massive intracellular accumulations of autofluorescent material with a golden yellow emission under blue light illumination . . . . In the cerebellum storage material was most prominent in the Purkinje cells, but substantial amounts of this material were also present in the granular layer . . . . Perinuclear accumulations of autofluorescent storage granules were observed in neurons throughout the cerebral cortex (Guo et al., 2015) The pathology of affected Chihuahuas was described by Faller et al. (2016).brRietmann et al. (2024): Pathological investigation of one affected [Small Swiss Hound] dog revealed cerebral and cerebellar atrophy with cytoplasmic accumulation of autofluorescent material in degenerating neurons.nbsp;Prevalence: Pervin et al. (2022) investigated the c.846delT allele in 1007 Chihuahuas in Japan and identified a carrier rate of 1.29%, indicating a mutant allele frequency (0.00645).
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 388244653 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Small deletion (omia.variant:551): "c.843delT is predicted to cause a frame shift and premature stop codon resulting in a truncated protein, MFSD8:p.F282Lfs13*, missing its 239 C-terminal amino acids" in the Chinese Crested breed (Guo et al., 2015). Faller et al. (2016) demonstrated that the same genetic variant is also present in Chihuahuas with neuronal ceroid lipofuscinosis 7. Karli et al. (201…
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.
- 2015. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis. BMC Vet Res — PubMed:PMID25551667 | DOI:10.1186/s12917-014-0181-z — OMIA Phene_Article / Article
- 2016. The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?. J Neurosci Res — PubMed:PMID26762174 | DOI:10.1002/jnr.23710 — OMIA Phene_Article / Article
- 2016. MFSD8 single-base pair deletion in a Chihuahua with neuronal ceroid lipofuscinosis. Anim Genet — PubMed:PMID27145727 | DOI:10.1111/age.12449 — OMIA Phene_Article / Article
- 2016. Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. Mol Genet Metab — PubMed:PMID27211611 | DOI:10.1016/j.ymgme.2016.05.008 — OMIA Phene_Article / Article
- 2017. Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis — PubMed:PMID28860089 | DOI:10.1016/j.nbd.2017.08.017 — OMIA Phene_Article / Article
- 2020. Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci — PubMed:PMID32219101 | DOI:10.3389/fvets.2020.00080 — OMIA Phene_Article / Article
- 2021. International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. J Vet Intern Med — PubMed:PMID33769611 | DOI:10.1111/jvim.16108 — OMIA Phene_Article / Article
- 2022. Screening and carrier rate of neuronal ceroid lipofuscinosis in Chihuahua dogs in Japan. Animals (Basel) — PubMed:PMID35565635 | DOI:10.3390/ani12091210 — 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
- 2024. Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis. Anim Genet — PubMed:PMID39434657 | DOI:10.1111/age.13485 — 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:610951 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:611124 (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."