OMIA:001279-9615 : Hypotrichosis, recessive in Canis lupus familiaris (dog)

In other species: pig

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607591 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: Recessive form of lack of hair growth

Species-specific name: Recessive hairlessness, congenital alopecia

Species-specific description: See also OMIA:000323-9615 : Ectodermal dysplasia in Canis lupus familiaris (dog) for a different genetic form of hairless dogs due to variants in the FOXI3 gene.

Inheritance: Sponenberg et al. (1988) reported matings of haired American Rat Terriers and American Hairless Terriers (AHT, the first AHT is from a litter American Rat Terriers) and concluded that the results were consistent with an autosomal recessive inheritance.

Mapping: Parker et al. (2017) mapped this trait to a region "greater than 4.8 Mb from chr29 : 15973319–20794824 in the CanFam3.1 assembly".

Molecular basis: Parker et al. (2017) identified a likely causal mutation ("SGK3^Val96GlyfsTer50"): a "deletion [that] removes four bases (TTAG) from chr29 : 16366702–16366705 within exon 4 of the serum/glucocorticoid regulated kinase family member 3 gene (SGK3). This deletion alters the reading frame of the protein at amino acid 96 creating a new protein sequence for 50 amino acids and a premature stop at amino acid 157. This mutation is predicted to knock out the original function of the gene as it removes the entire STKc_SGK3 catalytic domain for which the gene is named. . . . the 4 bp deletion . . . was resequenced in 12 hairless AHT [American Hairless Terrier] and four coated Rat Terriers . . . . All hairless AHT were found to have two copies of the mutation, while the four coated Rat Terriers were wild-type at both alleles". Hytönen and Lohi (2019) reported "a 1-bp insertion in exon 2 of SGK3 . . . [resulting] . . . in a predicted frameshift and very early truncation (49/490 amino acids) of the SGK3 protein." as a likely causal variant in Scottish Deerhounds. Parker et al. (2020) provided independent confirmation of this likely causal variant in Scottish Deerhounds.

Clinical features: American Hairless Terrier puppies are born with a sparse downy coat of hair that is lost within the first months of life and not replaced. Whiskers and eyebrows are present (Sponenberg et al., 1988). The 2 Scottish Deerhound puppies reported by Hytönen & Lohi (2019) "were born with sparse hair, but lost it completely within the first 2 months of life." Parker et al. (2020) identified the condition in an independent Scottish Deerhound family and noted that "puppies displayed either a normal, full coat or a sparse and receding coat ... . In those who initially had hair but went bald, the coat progressively thinned early in life and was completely gone by five weeks." Hairless dogs in both breeds are described as otherwise generally healthy (Parker et al., 2017; Hytönen & Lohi, 2019; Parker et al., 2020), but hairlessness is considered non desirable in the Scottish Deerhound.

Prevalence: Hytönen and Lohi (2019) "genotyped the SGK3:c.137_138insT variant . . . in a cohort of Scottish Deerhounds (n = 66) containing two affected dogs, two unaffected dogs, which had produced affected progeny, and 62 other unaffected dogs from our biobank. Both affected dogs were homozygous for the variant and the two obligate carriers were heterozygous, while the rest of the dogs were either heterozygous (n = 6) or homozygous for the wild-type allele (n = 56). These results demonstrate a full segregation of the variant with the disease and indicate a 12% carrier frequency in the studied cohort. We screened the variant also in a related breed, Irish Wolfhound (n = 91), but did not find any carriers, suggesting a breed-specific variant in SD population."

Breeds: American Hairless Terrier (Dog) (VBO_0200049), Rat Terrier (Dog) (VBO_0201125), Scottish Deerhound (Dog) (VBO_0201195).
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
SGK3 serum/glucocorticoid regulated kinase family, member 3 Canis lupus familiaris 29 NC_051833.1 (16355030..16498290) SGK3 Homologene, Ensembl , NCBI gene


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 Year Published PubMed ID(s) Acknowledgements
1063 Scottish Deerhound (Dog) Hypotrichosis, recessive SGK3 insertion, small (<=20) Naturally occurring variant CanFam3.1 29 g.16351976_16351977insT c.137_138insT p.(E47Gfs*3) NM_001190428.1; NP_001177357.1 2019 30927068 Genomic position in CanFam3.1 provided by Mateo Etcheveste and Robert Kuhn.
564 American Hairless Terrier (Dog) Hypotrichosis, recessive SGK3 deletion, small (<=20) Naturally occurring variant CanFam3.1 29 g.16366702_16366705del c.287_290delTTAG p.(V96Gfs*50) 2017 27994129

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001279-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2023 Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. :
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7.
Welle, M.M. :
Canine noninflammatory alopecia: An approach to its classification and a diagnostic aid. Vet Pathol :3009858231170295, 2023. Pubmed reference: 37191329. DOI: 10.1177/03009858231170295.
2020 Parker, H.G., Whitaker, D.T., Harris, A.C., Ostrander, E.A. :
Whole genome analysis of a single Scottish Deerhound dog family provides independent corroboration that a SGK3 coding variant leads to hairlessness. G3 (Bethesda) 10:293-297, 2020. Pubmed reference: 31727632. DOI: 10.1534/g3.119.400885.
2019 Hytönen, M.K., Lohi, H. :
A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions. Hum Genet 138:535-539, 2019. Pubmed reference: 30927068. DOI: 10.1007/s00439-019-02005-9.
2017 Parker, H.G., Harris, A., Dreger, D.L., Davis, B.W., Ostrander, E.A. :
The bald and the beautiful: hairlessness in domestic dog breeds. Philos Trans R Soc Lond B Biol Sci 372:20150488, 2017. Pubmed reference: 27994129. DOI: 10.1098/rstb.2015.0488.
2006 Mecklenburg, L. :
An overview on congenital alopecia in domestic animals. Vet Dermatol 17:393-410, 2006. Pubmed reference: 17083571. DOI: 10.1111/j.1365-3164.2006.00544.x.
1988 Sponenberg, D.P., Scott, E., Scott, W. :
American hairless terriers: a recessive gene causing hairlessness in dogs. J Hered 79:69, 1988. Pubmed reference: 3367039.

Edit History

  • Created by Frank Nicholas on 30 Jan 2017
  • Changed by Frank Nicholas on 30 Jan 2017
  • Changed by Frank Nicholas on 01 Apr 2019
  • Changed by Frank Nicholas on 30 Jan 2020
  • Changed by Imke Tammen2 on 19 May 2023
  • Changed by Imke Tammen2 on 13 Jun 2024