OMIA 002112-9615 : Osteogenesis imperfecta, COL1A2-related in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
166210
,
259420
,
166220
,
166710
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Dominant
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2001
Molecular basis:
Campbell et al. (2001) reported a likely causal variant in an affected Beagle as: "a mutation in which nucleotides 3991-3994 ("CTAG") were replaced with "TGTCATTGG." The first seven bases of the inserted sequence were identical to nucleotides 4002-4008 of the normal canine COL1A2 sequence. The resulting frameshift changed 30 amino acids and introduced a premature stop codon."
In an affected Chow Chow, Quist et al. (2017) identified a likely causal variant as "a G>A heterozygous mutation in the splice donor site of exon 18 of the COL1A2 gene (c.936+1G>A). The splice donor mutation was not detected among 91 control dogs representing 21 breeds. A comparative analysis of exon 18 and the exon-intron junction further showed that the mutated splice donor site is conserved among vertebrates."
Breeds: Beagle, Chow Chow. Associated gene:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| COL1A2 | collagen, type I, alpha 2 | Canis lupus familiaris | 14 | NC_006596.3 (19883731..19919527) | COL1A2 | Homologene, Ensembl, NCBI gene |
Variants
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Beagle | Osteogenesis imperfecta, COL1A2-related | COL1A2 | indel, small (<=20) | "a mutation in which nucleotides 3991-3994 ("CTAG") were replaced with "TGTCATTGG." The first seven bases of the inserted sequence were identical to nucleotides 4002-4008 of the normal canine COL1A2 sequence. The resulting frameshift changed 30 amino acids and introduced a premature stop codon." | 2001 | 11393792 | ||||||||
| Chow Chow | Osteogenesis imperfecta, COL1A2-related | COL2A1 | splicing | CanFam2 | 14 | g.22845733G>A | c.936+1G>A | 2017 | 29036614 |
References
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.
| 2017 | Quist, E.M., Doan, R., Pool, R.R., Porter, B.F., Bannasch, D.L., Dindot, S.V. : | |
| Identification of a candidate mutation in the COL1A2 gene of a Chow Chow with osteogenesis imperfecta. J Hered :, 2017. Pubmed reference: 29036614. DOI: 10.1093/jhered/esx074. | ||
| 2001 | Campbell, B.G., Wootton, J.A.M., Macleod, J.N., Minor, R.R. : | |
| Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha 2(I) and severe osteogenesis imperfecta Journal of Bone & Mineral Research 16:1147-1153, 2001. Pubmed reference: 11393792. DOI: 10.1359/jbmr.2001.16.6.1147. |
Edit History
- Created by Frank Nicholas on 13 Jul 2017
- Changed by Frank Nicholas on 13 Jul 2017
- Changed by Frank Nicholas on 25 Oct 2017
- Changed by Frank Nicholas on 23 Jan 2018