OMIA 000546-9615 : Ichthyosis, TGM1-related in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
190195
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2009
Molecular basis:
Credille et al. (2009) reported that this disorder in Jack Russells is due to a LINE-1 insertion in the TGM1 gene.
Breed:
Jack Russel Terrier.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TGM1 | transglutaminase 1 | Canis lupus familiaris | 8 | NC_006590.3 (4244768..4229410) | TGM1 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Jack Russell Terrier | Ichthyosis | TGM1 | insertion, gross (>20) | a LINE-1 insertion in the TGM1 gene | 2009 | 19438474 |
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.
| 2015 | Roethig, A., Schildt, K.J., Welle, M.M., Wildermuth, B.E., Neiger, R., Thom, N. : | |
| Is "milk crust" a transient form of golden retriever ichthyosis? Vet Dermatol 26:265-e57, 2015. Pubmed reference: 26178606. DOI: 10.1111/vde.12216. | ||
| 2013 | Mauldin, E.A. : | |
| Canine ichthyosis and related disorders of cornification. Vet Clin North Am Small Anim Pract 43:89-97, 2013. Pubmed reference: 23182326. DOI: 10.1016/j.cvsm.2012.09.005. | ||
| 2009 | Credille, KM., Minor, JS., Barnhart, KF., Lee, E., Cox, ML., Tucker, KA., Diegel, KL., Venta, PJ., Hohl, D., Huber, M., Dunstan, RW. : | |
| Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs. Br J Dermatol 161:265-72, 2009. Pubmed reference: 19438474. DOI: 10.1111/j.1365-2133.2009.09161.x. | ||
| 2000 | Hilsenroth, R. : | |
| Ichthyosis: Fish scale disease Canine Practice 25:3, 2000. | ||
| 1998 | Lewis, D.T., Ford, M.J., Kwochka, K.W. : | |
| Characterization and management of a Jack Russell terrier with congenital ichthyosis Veterinary Dermatology 9:111-118, 1998. |
Edit History
- Created by Frank Nicholas on 21 Jul 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 16 Jan 2012