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OMIA:000393-9615 : Tetragametic chimerism (including Freemartin) in Canis lupus familiaris (dog)

In other species: horse , pig , red deer , taurine cattle , sheep , bighorn sheep , water buffalo

Categories: Reproductive system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: no

Considered a defect: yes

Key variant known: no

Cross-species summary: This is a type of sex chromosome difference of sexual development (DSD). Tetragametic chimerism is a rare, sex chromosome difference of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins. [updated from Orphanet : 199310 ] Freemartin or free-martin is an infertile female animal which is the twin of a male animal whose anti-Müllerian hormones affected its development in utero. Genetically the animals are chimeric (microchimerism, XX/XY leukocyte chimerism) - some stem cells from the male twin are received during in utero development via vascular connections between placentas. The condition is mostly reported in ruminants due to their multicotyledonary placenta type. Phene was renamed to 'Tetragametic chimerism' [16/11/2022]

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

Breed: French Bulldog (Dog) (VBO_0201455).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000393-9615: 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.

2022 Schwartz, R., Sugai, N.J., Eden, K., Castaneda, C., Jevit, M., Raudsepp, T., Cecere, J.T. :
Case report: Disorder of sexual development in a Chinese Crested Dog with XX/XY leukocyte chimerism and mixed cell testicular tumors. Front Vet Sci 9:937991, 2022. Pubmed reference: 35898552. DOI: 10.3389/fvets.2022.937991.
2021 Szczerbal, I., Nizanski, W., Dzimira, S., Nowacka-Woszuk, J., Stachecka, J., Biezynski, J., Ligocka, Z., Jagodka, D., Fabian-Kurzok, H., Switonski, M. :
Chromosome abnormalities in dogs with disorders of sex development (DSD). Anim Reprod Sci 230:106771, 2021. Pubmed reference: 34034132. DOI: 10.1016/j.anireprosci.2021.106771.
2019 Szczerbal, I., Nowacka-Woszuk, J., Nizanski, W., Dzimira, S., Ligocka, Z., Jastrzebska, A., Kabala, B., Biernacik, M., Przadka, P., Switonski, M. :
Disorders of sex development are an emerging problem in French Bulldogs: A description of six new cases and a review of the literature. Sex Dev 13:205-211, 2019. Pubmed reference: 32203972. DOI: 10.1159/000506582.

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  • Created by Frank Nicholas on 25 Mar 2020