OMIA 000546-9615 : Ichthyosis, TGM1-related in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
TGM1 | transglutaminase 1 | Canis lupus familiaris | 8 | NC_051812.1 (4355545..4340192) | TGM1 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
706 | Jack Russell Terrier | Ichthyosis | TGM1 | insertion, gross (>20) | Naturally occurring variant | 8 | 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.
2021 | Mauldin, E.A., Elias, P.M. : | |
Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol 32:567-e154, 2021. Pubmed reference: 34796560. DOI: 10.1111/vde.13033. | ||
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