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Basic Concepts of Reproductive Biology and Genetics

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Book cover Genetics of the Mouse

Abstract

This chapter brings together a variety of information and concepts that are important for understanding the following chapters. The first section is an overview concerning mouse reproductive biology and embryology. This topic is important because, nowadays, many experiments in genetics require the manipulation of embryos at different stages of development, either to study their phenotype or for the production of chimeras with other embryos or with genetically engineered embryonic stem (ES) cells. The second part is a compilation of concepts of general or molecular genetics related to the phenotypic expression of mutations. More information can also be retrieved from several websites, where books and manuals are freely available online.

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Notes

  1. 1.

    The website http://informatics.jax.org/ is a fundamental database resource for the laboratory mouse, providing integrated genetic, genomic, and biological data. It is a true “gold mine” for mouse geneticists to which we will frequently refer. Several books dealing with some fundamental aspects of mouse biology are freely available at this website.

  2. 2.

    The reproductive activity of wild mice is interrupted or reduced during winter. This period is called anestrus.

  3. 3.

    Estrus, sometimes spelled oestrus (UK), is a noun; estrous (oestrous) is the corresponding adjective.

  4. 4.

    For some precisely timed pregnancies, female mice must sometimes be bred in a “light-reversed” environment.

  5. 5.

    Such a vaginal plug is specific to the Mus genus and does not exist, for example, in the rat. Whether it confers a selective advantage to the species is an open question.

  6. 6.

    As mentioned, most matings occur during the night; this is why “plugging” must be achieved preferably during the morning of the following day. Detection of a plug is sometimes very easy, especially when it bulges out of the vagina. In other instances, a probe may be necessary to detect resistance when gently inserted into the vagina. The type of probe used by ophthalmologists to unclog the tear ducts of human patients is a perfect tool for this task.

  7. 7.

    Dating the different steps of mouse embryonic development has been a matter of controversy. Some embryologists wanted the first day of pregnancy to be designated day 1; others argued that it should be day 0. In fact, the most accurate dating takes into account that, when the vaginal plug is discovered, the embryo is at 0.5 days of development. At this time it is a one-cell embryo just after fertilization (E0.5) (based on Theiler 1972).

  8. 8.

    Resorption of the corpora lutea is triggered by prostaglandins secreted by the placenta.

  9. 9.

    A gentle pressure on the pelvis of the mouse allows one to detect the relaxation of the pelvic girdle.

  10. 10.

    Making the observation of non-viable (stillbirth) phenotypes difficult.

  11. 11.

    If this is not the case, the pups are left outside of the nest; they progressively cool, do not move much, and have no milk in their stomachs. Foster nursing is then urgent.

  12. 12.

    Selecting a mother nursing a litter with a different coat color (albino/non-albino) is a clever way to check the success of the adoption without perturbing the mother.

  13. 13.

    A useful and reliable criterion is the average number of mice weaned per mated female per week.

  14. 14.

    The response to gonadotropin injections may also vary from one batch of hormone to the next.

  15. 15.

    An ear speculum is an ideal tool. The extremity of a 20-ml glass pipette would also fit perfectly for this purpose.

  16. 16.

    The t-haplotype is a small chromosomal region of chromosome 17 that is highly polymorphic among wild mice of the Mus m. domesticus species. Frequently, t-haplotypes of wild origin are not transmitted by heterozygous males in compliance with Mendel’s laws (i.e., 50:50), but at a much higher frequency (95:5 or even 99:1).

  17. 17.

    It is for the rapid and safe identification of the origin of its progeny that mice of the strain 129/J segregate for the coat color alleles Tyr c and Tyr ch.

  18. 18.

    Experiments performed at the Harwell (MRC) Research Centre have demonstrated that the damage caused by radiation (cosmic rays) to mouse embryos when stored at low temperatures for very long periods is practically negligible.

  19. 19.

    It is not easy to observe twins by the mere examination of the implants in the mouse uterus, as placental fusion is frequent in this species.

  20. 20.

    Discordances between the number of implants (dead or alive) and the number of corpora lutea does not support the idea that twinning commonly occurs in the mouse.

  21. 21.

    Twinning (sometimes called “polyembryony”) is the rule in nine-banded armadillos of the South American species Dasypus novemcinctus. In this species, the females regularly deliver progenies composed of four monozygotic twins. This regular production of genetically identical offspring makes the species a valuable model for multiple births.

  22. 22.

    Cells of the cumulus oophorus are ovarian (but somatic) cells. They surround the oocyte and are shed with it upon ovulation.

  23. 23.

    Cells with 2n + 1 chromosomes (trisomic) are in general more viable than cells with 2n − 1 chromosomes (monosomic).

  24. 24.

    Sometimes called tetraparental chimeras.

  25. 25.

    This cavity is often called a blastocoel.

  26. 26.

    G.W. Beadle and E.L. Tatum were awarded the Nobel Prize in Physiology or Medicine in 1958 for their discovery of the “role of genes in regulating biochemical events within cells”.

  27. 27.

    The transcriptome corresponds to the full set of RNA molecules that are transcribed from the genome. This point will be extensively discussed in Chap. 5.

  28. 28.

    The word electromorph has been coined to define the alleles characterized by a different global electrical charge.

  29. 29.

    When an allele is fully dominant, geneticists often write the genotype Mut/–, indicating that the allele in question completely determines the phenotype.

  30. 30.

    These yellow mice posed a problem to Cuénot while he was trying to demonstrate that Mendel’s laws also apply to mammals. When intercrossing A y/A mice, he did not find the expected 1:2:1 proportions of phenotypes for a single gene with two alleles, but instead found a 1:2:0 ratio. However, Cuénot provided the correct explanation for these “unusual” proportions.

  31. 31.

    A mutation that leads to the synthesis of a mutant protein that interferes or disrupts the activity of the wild-type protein in the multimer is called a dominant-negative mutation. A typical example is found in the syndrome of osteogenesis imperfecta (O.I. Type III) in which structurally defective type I collagen is formed.

  32. 32.

    Genome annotation consists of attaching biological information to a particular DNA sequence, or of establishing a link between a gene (or a small chromosomal region) and a given phenotype by any possible means.

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Authors and Affiliations

  1. Institut Pasteur, Paris, France

    Jean-Louis Guenet

  2. Department of Molecular Carcinogenesis Division of Basic Science Research, The University of Texas MD Anderson Cancer Center, Smithville, TX, USA

    Fernando Benavides

  3. Mouse Functional Genetics Unit, Institut Pasteur, Paris, France

    Jean-Jacques Panthier & Xavier Montagutelli

  4. Ecole Nationale Vétérinaire d’Alfort, 4, avenue du Général de Gaulle, Maisons-Alfort, France

    Jean-Jacques Panthier

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  1. Jean-Louis Guenet
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  2. Fernando Benavides
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  3. Jean-Jacques Panthier
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  4. Xavier Montagutelli
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Correspondence to Jean-Louis Guenet .

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Guenet, JL., Benavides, F., Panthier, JJ., Montagutelli, X. (2015). Basic Concepts of Reproductive Biology and Genetics. In: Genetics of the Mouse. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-44287-6_2

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