OMIA:001962-9986 : Neuronal ceroid lipofuscinosis, 7 in Oryctolagus cuniculus (rabbit)

In other species: Japanese macaque , dog , domestic cat

Categories: Lysosomal storage disease , Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610951 (trait) , 611124 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2024

Cross-species summary: One of several variants of neuronal ceroid lipofuscinosis (NCL) or Batten disease: CLN7; NCL7

Molecular basis: Christen et al. (2024) "the genome of the affected [lionhead dwarf] rabbit was sequenced and examined for private variants in NCL candidate genes. The analysis revealed a homozygous ~10.7 kb genomic duplication on chromosome 15 comprising parts of the MFSD8 gene, NC_013683.1:g.103,727,963_103,738,667dup. The duplication harbors two internal protein coding exons and is predicted to introduce a premature stop codon into the transcript, truncating ~50% of the wild-type MFSD8 open reading frame encoding the major facilitator superfamily domain containing protein 8, XP_002717309.2:p.(Glu235Leufs*23)."

Clinical features: Böttcher-Künneke et al. (2020) reported a 2 year old female lionhead dwarf rabbit which "was presented due to behavioural changes, acute anxiety, hyperaesthesia, disorientation, ataxia, loss of vision, phantom scratching, epileptic seizures and a severe nasal dermatitis; all of which progressed within the following twelve months. ... Due to the progressive deterioration of its clinical signs and poor quality of life, the rabbit was euthanised."

Pathology: Böttcher-Künneke et al. (2020) report pathological findings in the affected lionhead dwarf rabbit: "At necropsy, a symmetrical internal hydrocephalus of the lateral ventricles was present. Histologically, neurons of the cerebrum, hippocampus, cerebellum, brain stem and spinal cord were enlarged due to the accumulation of an eosinophilic, partially granular intracytoplasmic material, which led to the diagnosis of a neuronal storage disease." Christen et al. (2024) report additional pathological findings: "Cytoplasmic pigment present in neurons was weakly positive with Sudan black B and autofluorescent. Immunohistology revealed astrogliosis, microgliosis and axonal degeneration."

Breed: Lionhead Dwarf.
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MFSD8 major facilitator superfamily domain containing 8 Oryctolagus cuniculus 15 NC_067388.1 (100608352..100557652) MFSD8 Homologene, Ensembl , NCBI gene


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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1694 Lionhead Dwarf Neuronal ceroid lipofuscinosis, 7 MFSD8 duplication Naturally occurring variant 15 NC_013683.1:g.103727963_103738667dup XM_002717263.3:c.202_701dup XP_002717309.2:p.(E235Lfs*23) 2024 38712841

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001962-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Christen, M., Gregor, K.M., Böttcher-Künneke, A., Lombardo, M.S., Baumgärtner, W., Jagannathan, V., Puff, C., Leeb, T. :
Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis. Anim Genet 55:588-598, 2024. Pubmed reference: 38712841. DOI: 10.1111/age.13441.
2020 Böttcher-Künneke, A., Gregor, K., Baumgärtner, W., Puff, C. :
Neuronale Speicherkrankheit bei einem ausgewachsenen weiblichen Kaninchen. Kleintierpraxis 65:656–665, 2020. DOI:

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  • Created by Imke Tammen2 on 09 May 2024