OMIA:000901-9685 : XX difference of sexual development, generic in Felis catus (domestic cat)

In other species: common carp , guppy , Japanese medaka , dog , horse , pig , llama , goat

Categories: Reproductive system phene

Links to MONDO diseases:

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: This phene includes information about XX differences of sexual development (XX DSD) in animals with an XX karyotype for which the causal variant has so far not been identified. This phene has been renamed from 'XX testicular DSD (Disorder of Sexual Development)' [29/09/2023] and was previously known as Sex reversal: XX male or SRY-negative XX sex reversal.

History: De Lorenzi et al. (2017) reported "the first case of an XX (SRY-negative) DSD cat".

Molecular basis: De Lorenzi et al. (2017): "sequencing of the RSPO1 gene revealed no mutation, and FISH analysis of the SOX9 locus did not reveal any large abnormalities."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: De Lorenzi et al. (2017): "The cat possesses a tortoiseshell coat associated with male-like external genitalia, including normal scrotum with 2 palpably normal testicles. Histological analysis confirmed the presence of the testes, and cytogenetic and genetic analyses showed a female karyotype associated with the absence of the SRY gene"

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2017). OMIA:000901-9685: 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.

2020 Szczerbal, I., Switonski, M. :
Genetic disorders of sex development in cats: An update. Anim Reprod Sci 216:106353, 2020. Pubmed reference: 32414464. DOI: 10.1016/j.anireprosci.2020.106353.
2017 De Lorenzi, L., Banco, B., Previderè, C., Bonacina, S., Romagnoli, S., Grieco, V., Parma, P. :
Testicular XX (SRY-negative) disorder of sex development in cat. Sex Dev 11:210-216, 2017. Pubmed reference: 28848109. DOI: 10.1159/000479175.

Edit History

  • Created by Frank Nicholas on 13 Sep 2017
  • Changed by Frank Nicholas on 13 Sep 2017