Neuronal ceroid lipofuscinosis, 3
Phenotype Details
- Phene ID
- 5881
- Name
- Neuronal ceroid lipofuscinosis, 3
- Phene Name
- delayed-onset retinal degeneration
- OMIA ID
- 2432
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2024
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1669 | Retinal degeneration, CLN3-realted | 388265019 | 1 | 25 | NC_037352.1:g.26043843del | NM_001075174.2:c.1106del | NP_001068642.2:p.(P369Rfs*8) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Hereford (Cattle) | 17 | 9913 | http://purl.obolibrary.org/obo/VBO_0000232 |
Inheritance
Reith et al. (2024): "All blind [Hereford] cattle shared a common ancestor through both the maternal and paternal pedigrees, suggesting a recessive genetic origin."
Molecular Genetics
Reith et al. (2024): "Whole-genome sequencing (WGS) of 7 blind cattle and 9 unaffected relatives revealed a 1-bp frameshift deletion in ceroid lipofuscinosis neuronal 3 (CLN3; chr25 g.26043843del) for which the blind cattle were homozygous and their parents heterozygous. The identified variant in exon 16 of 17 is predicted to truncate the encoded protein (p. Pro369Argfs*8) ... ."