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OMIA:000546-9615 : Ichthyosis, TGM1-related in Canis lupus familiaris (dog)

Categories: Integument (skin) phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 190195 (gene) , 242300 (trait)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: 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.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

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

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
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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.

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