OMIA:000546-9615 : Ichthyosis, TGM1-related in Canis lupus familiaris (dog) |
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 190195 (gene) , 242300 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2009
Species-specific name: Epidermolytic ichthyosis; TGase 1 deficient lamellar ichthyosis
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 Russell Terrier (Dog) (VBO_0200724).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| 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
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 706 | Jack Russell Terrier (Dog) | Ichthyosis | TGM1 | insertion, gross (>20) | Naturally occurring variant | 8 | a LINE-1 insertion in the TGM1 gene | 2009 | 19438474 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000546-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2024 | Mauldin, E., Bradley, C., Casal, M., Meyer, J., Crumrine, D., Kiener, S., Leeb, T., Elias, P.M. : |
| Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1-deficient Jack Russell Terriers and response to topical ceramide. Vet Dermatol 35:617-625, 2024. Pubmed reference: 39118209. DOI: 10.1111/vde.13285. | |
| 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. | |
| 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
- Changed by Imke Tammen2 on 09 May 2023