OMIA:002296-9615 : XY sex reversal, NR5A1-related in Canis lupus familiaris (dog)

Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 612965 (trait) , 184757 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Cross-species summary: This is a type of XY difference of sexual development (XY DSD) due to variants in the NR5A1 gene. The gene is also called SF1.

Species-specific name: XY difference of sexual development, NR5A1-related; XY disorder of sexual development, NR5A1-related

History: Nowacka-Woszuk et al. (2020): "This is the first mutation in the NR5A1 gene leading to XY DSD phenotype to be reported in domestic animals."

Molecular basis: Nowacka-Woszuk et al. (2020) reported "a large deletion consisting of four exons of the NR5A1 gene was identified in a Yorkshire Terrier with a rudimentary penis, hypospadias, bilateral cryptorchidism, and spermatogenesis inactive testes."

Breed: Yorkshire Terrier (Dog) (VBO_0201448).
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
NR5A1 Canis lupus familiaris 9 NC_051813.1 (59379513..59404555) NR5A1 Homologene, Ensembl , NCBI gene


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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
1264 Yorkshire Terrier (Dog) XY difference of sexual development, NR5A1-related NR5A1 deletion, gross (>20) Naturally occurring variant 9 "a large deletion consisting of four exons of the NR5A1 gene" (Nowacka-Woszuk et al., 2020) 2020 33128907

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002296-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2020 Nowacka-Woszuk, J., Szczerbal, I., Stachowiak, M., Dzimira, S., Nizanski, W., Biezynski, J., Nowak, T., Gogulski, M., Switonski, M. :
Screening for structural variants of four candidate genes in dogs with disorders of sex development revealed the first case of a large deletion in NR5A1. Anim Reprod Sci 223:106632, 2020. Pubmed reference: 33128907. DOI: 10.1016/j.anireprosci.2020.106632.

Edit History

  • Created by Frank Nicholas on 02 Nov 2020
  • Changed by Frank Nicholas on 02 Nov 2020
  • Changed by Imke Tammen2 on 03 Sep 2021
  • Changed by Imke Tammen2 on 28 Sep 2023