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. 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.

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