Live Birth in Sex-Reversed XY Mice Lacking the Nuclear Receptor Dax1

The nuclear hormone receptor Dax1 functions during development as a testes-determining gene. However, the phenotype of male mice lacking Dax1 is strain-dependent due to the background-specific abundance of male-determining Sry gene - transcripts. We hypothesised that inter-individual variation in Sr...

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Bibliographic Details
Published in:Scientific reports 2020-02, Vol.10 (1), p.1703-1703, Article 1703
Main Authors: Fernandes-Freitas, Isabel, Milona, Alexandra, Murphy, Kevin G., Dhillo, Waljit S., Owen, Bryn M.
Format: Article
Language:English
Subjects:
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Abundance
Animal reproduction
Animals
Biological Variation, Individual
Cellular biology
DAX-1 Orphan Nuclear Receptor - genetics
Disorders of Sex Development - genetics
Endocrinology
Estrogens
Female
Females
Fertility
Gene expression
Genetic Background
Genotype & phenotype
Histology
Humanities and Social Sciences
Humans
Male
Males
Medical research
Metabolism
Mice
Mice, Inbred C57BL
Mice, Knockout
Morphology
multidisciplinary
Offspring
Ovaries
Parturition
Phenotype
Phenotypes
Plasma
Proteins
Puberty
Science
Science (multidisciplinary)
Sex
Sex Determination Processes - physiology
Sex-Determining Region Y Protein - genetics
Testes
Testis - physiology
Uterus
Vagina
Weaning
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Description
Summary:The nuclear hormone receptor Dax1 functions during development as a testes-determining gene. However, the phenotype of male mice lacking Dax1 is strain-dependent due to the background-specific abundance of male-determining Sry gene - transcripts. We hypothesised that inter-individual variation in Sry mRNA-abundance would result in a spectrum of phenotypes even within-strain. We found that while all XY C57BL/6J mice lacking Dax1 presented as phenotypic females, there was a marked inter-individual variability in measures of fertility. Indeed, we report rare occasions where sex-reversed mice had measures of fertility comparable to those in control females. On two occasions, these sex-reversed XY mice were able to give birth to live offspring following mating to stud-males. As such, this work documents within-strain variability in phenotypes of XY mice lacking Dax1, and reports for the first time a complete sex-reversal capable of achieving live birth in these mice.
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-020-58788-9