Cataract, recessive, NID1-related
- Phene ID
- 3736
- Name
- Cataract, recessive, NID1-related
- Phene Name
- N/A
- OMIA ID
- 1936
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2014
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 679 | Cataract, recessive, Romagnola | 388274229 | 1 | 28 | N/A | N/A | N/A |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Romagnola (Cattle) | 202 | 9913 | http://purl.obolibrary.org/obo/VBO_0000360 |
Murgiano et al. (2014) provided pedigree evidence for autosomal recessive inheritance.
As reported by Murgiano et al. (2014), the candidate region (mentioned in the Mapping section above) contains 42 annotated and several uncharacterised genes, none of which are obvious functional candidate genes for this disorder. Analysis of whole-genome sequencing data from of one of the affected calves (~x13.5) and 44 other cattle from 15 breeds narrowed the field of positional candidate causal mutations down to one SNV in an uncharacterised gene and "an 855 bp deletion across the exon 19/intron 19 border of the bovine nidogen 1 (NID1) gene (c.3579_3604+829del)". Genotyping of a larger cohort confirmed the deletion as being causal. Murgiano et al. (2014) also reported that "RT-PCR showed that NID1 is expressed in bovine lenses while the transcript of the second locus was absent. The NID1 deletion leads to the skipping of exon 19 during transcription and is therefore predicted to cause a frameshift and premature stop codon (p.1164fs27X). The truncated protein lacks a C-terminal domain essential for binding with matrix assembly complexes."