Live Birth in Sex-Reversed XY Mice Lacking the Nuclear Receptor Dax1. 2020

Isabel Fernandes-Freitas, and Alexandra Milona, and Kevin G Murphy, and Waljit S Dhillo, and Bryn M Owen
Section of Endocrinology & Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Metabolism, Digestion, and Reproduction, Imperial College London, London, United Kingdom.

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.

UI MeSH Term Description Entries
D008297 Male Males
D008810 Mice, Inbred C57BL One of the first INBRED MOUSE STRAINS to be sequenced. This strain is commonly used as genetic background for transgenic mouse models. Refractory to many tumors, this strain is also preferred model for studying role of genetic variations in development of diseases. Mice, C57BL,Mouse, C57BL,Mouse, Inbred C57BL,C57BL Mice,C57BL Mice, Inbred,C57BL Mouse,C57BL Mouse, Inbred,Inbred C57BL Mice,Inbred C57BL Mouse
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D005260 Female Females
D005298 Fertility The capacity to conceive or to induce conception. It may refer to either the male or female. Fecundity,Below Replacement Fertility,Differential Fertility,Fecundability,Fertility Determinants,Fertility Incentives,Fertility Preferences,Fertility, Below Replacement,Marital Fertility,Natural Fertility,Subfecundity,World Fertility Survey,Determinant, Fertility,Determinants, Fertility,Fertility Determinant,Fertility Incentive,Fertility Preference,Fertility Survey, World,Fertility Surveys, World,Fertility, Differential,Fertility, Marital,Fertility, Natural,Preference, Fertility,Preferences, Fertility,Survey, World Fertility,Surveys, World Fertility,World Fertility Surveys
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000068617 Genetic Background The entire genetic composition of a strain or individual that interacts with a gene of interest. Background, Genetic,Backgrounds, Genetic,Genetic Backgrounds
D000076103 Biological Variation, Individual Differences in measurable biological values, characteristics, or traits, within one individual under different conditions for the individual such as fasting, season of the year, age, or state of wellness. Biological Variation, Within-Individual,Intra-Individual Biological Variation,Within-Individual Biological Variation,Within-Person Variation,Within-Subject Variation,Biological Variation, Intra-Individual,Biological Variation, Within Individual,Biological Variations, Individual,Biological Variations, Intra-Individual,Biological Variations, Within-Individual,Individual Biological Variation,Individual Biological Variations,Intra Individual Biological Variation,Intra-Individual Biological Variations,Variation, Individual Biological,Variation, Intra-Individual Biological,Variation, Within-Individual Biological,Variation, Within-Person,Variation, Within-Subject,Variations, Individual Biological,Variations, Intra-Individual Biological,Variations, Within-Individual Biological,Variations, Within-Person,Variations, Within-Subject,Within Individual Biological Variation,Within Person Variation,Within Subject Variation,Within-Individual Biological Variations,Within-Person Variations,Within-Subject Variations
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D012734 Disorders of Sex Development In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. Disorders of Sexual Development,Sex Development Disorders,Sex Differentiation Disorders,Ambiguous Genitalia,Genital Ambiguity,Hermaphroditism,Intersex Conditions,Intersexuality,Pseudohermaphroditism,Sexual Development Disorders,Sexual Differentiation Disorders,Ambiguities, Genital,Ambiguity, Genital,Condition, Intersex,Conditions, Intersex,Differentiation Disorder, Sex,Differentiation Disorder, Sexual,Differentiation Disorders, Sex,Differentiation Disorders, Sexual,Disorder, Sex Differentiation,Disorder, Sexual Differentiation,Disorders, Sex Differentiation,Disorders, Sexual Differentiation,Genital Ambiguities,Genitalia, Ambiguous,Intersex Condition,Intersexualities,Sex Development Disorder,Sex Differentiation Disorder,Sexual Development Disorder,Sexual Differentiation Disorder

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