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Animal Models of Major Gene Defects

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Teratology

Abstract

Malformations inherited by simple dominant or recessive patterns have been well recognized in the literature of teratology and human genetics (McKusick, 1966, 1969; Saxén and Rapola, 1969; Stern, 1973; Wilson, 1973; Motulsky and Lenz, 1974). Much of the literature on man is based on very small pedigrees and detailed studies of the genetics and the embryology have not been done. Many malformations in man have not been susceptible to genetic analysis due to lack of adequate pedigree data. Embryological studies of malformation have been limited by the rarity of the defects and the lack of fetal specimens. Only recently has an extensive series of normal human embryos been examined (Nishimura et al., 1968).

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References

  • Bergsma, D. R., Brown, K. S.: White fur, blue eyes and deafness in the domestic cat. J. Hered. 62, 171 (1971).

    PubMed  CAS  Google Scholar 

  • Beveridge,W. I. B.: Bibliography on congenital defects in animals. Geneva: World Health Organization 1974.

    Google Scholar 

  • Bonner, J. J., Slavkin, H. C: Cleft palate susceptibility linked to histocompatability-2 (H-2) in the mouse. J. Immunogenet. (in press 1975).

    Google Scholar 

  • Brewbaker, J. L.: Agricultural Genetics. Englewood Cliffs: Prentice-Hall 1964. Chapters three and nine.

    Google Scholar 

  • Cattanach, B. M.: Genetic disorders of sex determination in mice and other mammals, p. 129. Birth Defects, A. Motulsky, W. Lenz, Eds. Amsterdam: Excerpta Medica 1974.

    Google Scholar 

  • Cattanach, B. M., Pollard, C. E., Hawkes, S. G.: Sex-reversed mice: XX and XO males. Cytogenet. 10, 318 (1971).

    Article  CAS  Google Scholar 

  • Clegett, C. O.: Genetic control of the riboflavin carrier protein. Fed. Proc. 30, 127 (1971).

    Google Scholar 

  • Committee for the Conference on Biological significance of Histocompatibility antigens. Fed. Proc. 31, 1087 (1972).

    Google Scholar 

  • Davidson, J. G., Fraser, F. C, Schlager, G.: A maternal effect on the frequency of spontaneous cleft lip in the A/J mouse. Teratology 2, 371 (1969).

    Article  PubMed  CAS  Google Scholar 

  • Deol, M. S.: An experimental approach to the understanding and treatment of hereditary syndromes with congenital deafness and hypothyroidism. J. med. Genet. 10, 235 (1973).

    Article  PubMed  CAS  Google Scholar 

  • Dofuku, R., Tettenborn, U., Ohno, S.: Testosterone-”Regulon” in the mouse kidney. Nature (Lond.) New Biol. 232, 5 (1971).

    CAS  Google Scholar 

  • Erway, L. C., Fraser, A. S., Hurley, L. C.: Prevention of congenital otolith defect in pallid mutant mice by manganese supplementation. Genet. 67, 97 (1971).

    CAS  Google Scholar 

  • Erway, L., Hurley, L. S., Fraser, A. S.: Congenital ataxia and otolith defects due to manganese deficiency in mice. J. Nutr. 100, 643 (1970).

    PubMed  CAS  Google Scholar 

  • Erway, L. C., Mitchell, S. E.: Prevention of otolith defect in pastel mink by manganese supplementation. J. Hered. 64, 111 (1973).

    PubMed  CAS  Google Scholar 

  • Excerpta Medica, Section 21, Human Developmental Biology (Cont. as Developmental Biology and Teratology). Amsterdam: Excerpta Medica.

    Google Scholar 

  • Fraser, G. R.: Association of congenital deafness with goitre (Pendred’s syndrome). Ann. Hum. Genet. 28, 201 (1965).

    Article  PubMed  CAS  Google Scholar 

  • Gluecksohn-Waelsch, S., Erickson, R. P.: The T-locus of the mouse: implications for mechanisms of development. Chapter 8, current topics in developmental biology, vol. 5, A. A. Moscona, A. Monroy, Eds. New York-London: Academic Press 1970.

    Google Scholar 

  • Goldstein, J. L., Wilson, J. D.: Studies on the pathogenesis of the pseudohermaphroditism in the mouse with testicular feminization. J. clin. Invest. 51, 1647 (1972).

    Article  PubMed  CAS  Google Scholar 

  • Goldstein, J. L., Wilson,J. D.: Hereditary disorders of sexual development in man, p. 165. Birth Defects, A. Motulsky, W. Lenz, Eds. Amsterdam: Excerpta Medica 1974.

    Google Scholar 

  • Grabowski, C. T.: Embryonic oxygen deficiency — a physiological approach to analysis of teratological mechanisms. Advances in teratology, vol. 4, D. H. M. Woollam, Ed. New York-London: Academic Press 1970.

    Google Scholar 

  • Green, E. L., Ed.: Biology of the laboratory mouse, second edition. New York-Toronto-Sydney-Londor: McGraw-Hill 1966.

    Google Scholar 

  • Greene, H. S. N., Saxton, J. A., Jr.: Hereditary brachydactylia and allied abnormalities in the rabbit. J. exp. Med. 69, 301 (1939).

    Article  PubMed  CAS  Google Scholar 

  • Greengard, O.: Effects of hormones on development of fetal enzymes. Clin. Pharmacol. Ther. 14, 721 (1973).

    PubMed  CAS  Google Scholar 

  • Grüneberg, H.: The genetics of the mouse, second ed. The Hague: Nijhoff 1952.

    Google Scholar 

  • Hetzel, S., Brown, K. S.: Facial clefts and lip hematoma in mouse fetuses given diphenyl-hydantoin. J. dent. Res. 54 A, 83 (1975).

    Google Scholar 

  • Hinchliffe, J. R.: Experimental modification of cell death and chondrogenesis in insulin-induced micromelia of the developing chick limb. Teratology 9, 263 (1974).

    Article  PubMed  CAS  Google Scholar 

  • Hinchliffe, J. R., Ede, D. A.: Limb development in the polydactylous talpid3 mutant of the fowl. J. Embryol. exp. Morph. 17, 385 (1967).

    Google Scholar 

  • Hinchliffe, J. R., Thorogood,P. V.: Genetic inhibition of mesenchymal cell death and the development of form and skeletal pattern in the limbs of talpid3 (ta3) mutant chick embryos. J. Embryol. exp. Morph. 31, 747 (1974).

    PubMed  CAS  Google Scholar 

  • Hollander, C. S., Prout, T. E., Rienhoff, M. C., Ruben, R. J., Asper, S. P.: Congenital deafness and goiter. Amer. J. Med. 37, 630 (1964).

    Article  PubMed  CAS  Google Scholar 

  • Hurley,L. S.: Nutrients and genes: interactions in development. Nutr. Rev. 27, 3 (1969).

    Article  PubMed  CAS  Google Scholar 

  • Hurley, L. S., Bell, L. T.: Genetic influences on response to dietary manganese deficiency in mice. J. Nutr. 104, 133 (1974).

    PubMed  CAS  Google Scholar 

  • Hutt, F. B.: Animal Genetics. New York: Ronald Press 1964. p. 380.

    Google Scholar 

  • Itakura, H., Ohno, S.: The effect of the mouse x-linked testicular feminization mutation on the hypothalamus-pituitary axis. Clin. Genet. 4, 91 (1973).

    Article  PubMed  CAS  Google Scholar 

  • Jost, A.: Dégénérescence des extrémités du foetus de rat sous l’action de certaines preparations hypophysäres. C. R. Soc. Biol. 144, 1324 (1950).

    CAS  Google Scholar 

  • Jost, A.: Dégénérescence des extrémités du foetus de rat provoquée par l’adrénaline. C. R. Soc. Biol. 236, 1510 (1953).

    CAS  Google Scholar 

  • Larsson, K. S., Erickson, B., Bostrom, H.: Salicylate-induceçl skeletal and vessel malformations in mouse embryos. Acta Morphol. Neerl. Scand. 6, 34 (1964).

    Google Scholar 

  • La Vail, M. M., Sidman, R. L.: C57BL/6J mice with inherited retinal degeneration. Arch. Ophthalmol. 91, 394 (1974).

    Google Scholar 

  • Lim, D. J., Erway, L. C: Influence of manganese on genetically defective otolith. Ann. Otol. (St. Louis) 83, 565 (1974).

    CAS  Google Scholar 

  • Lyon, M. F., Hawkes, S. G.: X-linked gene for testicular feminization in the mouse. Nature (Lond.) 225, 1217 (1970).

    Article  Google Scholar 

  • Lyon, M. F., Hendry, I., Short, R. V.: The submaxillary salivary glands as test organs for response to androgen in mice with testicular feminization. J. Endocr. 58, 357 (1973).

    Article  PubMed  CAS  Google Scholar 

  • McKusick, V. A.: Heritable disorders of connective tissue, 3rd edition. St. Louis: Mosby 1966.

    Google Scholar 

  • McKusick, V. A.: Human Genetics, 2nd edition. Englewood Cliffs: Prentice-Hall 1969. Chapter 5.

    Google Scholar 

  • Micková, M., Iváni, P.: Sex-dependent and H-2 linked influence on expressivity of the brachyury gene in mice. J. Hered. 65, 369 (1974).

    PubMed  Google Scholar 

  • Milaire, J.: Histochemical observations on the developing foot of normal, oligosyndactylous (Os/ +) and syndactylous (SM/SM) mouse embryos. Arch. Biol. (Liège) 78, 223 (1967).

    CAS  Google Scholar 

  • Motulsky, A. G.,Lenz, W.: Birth Defects. Amsterdam: Excerpta Medica 1974.

    Google Scholar 

  • Mulvihill, J. J.: Congenital and genetic disease in domestic animals. Science 176, 132 (1972).

    Article  PubMed  CAS  Google Scholar 

  • Nishimura, H., Takano, K., Tanimura, T., Yasuda, M.: Normal and abnormal development of human embryos: first report of the analysis of 1213 intact embryos. Teratology 1, 281 (1968).

    Article  PubMed  CAS  Google Scholar 

  • Ohno, S.: Regulatory genetics of sex differentiation. Birth Defects, p. 148, A. Motulsky, W. Lenz, Eds. Amsterdam: Excerpta Medica 1974.

    Google Scholar 

  • Patterson, D. F.: Comparative medical genetics: studies in domestic animals. Birth Defects: Original Article Series, vol. X, no. 10, 263, D. Bergsma, Ed. White Plains, New York: The National Foundation-March of Dimes 1974.

    Google Scholar 

  • Petter, C, Bourbon, J., Maltier, J. P., Jost, A.: Prevention des amputations congenitales héréditaires du lapin par une hyperoxie maternelle. C. R. Acad. Sei. (Paris) 273, 2639 (1971).

    CAS  Google Scholar 

  • Petter, C, Bourbon,J., Maltier, J. P., Jost, A.: Production d’hémorragies des extrémités chez le foetus de rat soumis a une hypoxie in utero. C. R. Acad. Sei. (Paris) 272, 2488 (1971 A).

    CAS  Google Scholar 

  • Petter, C, Bourbon, J., Maltier, J. P., Jost, A.: Hématies primordiales et amputations congenitales chez les foetus de lapin porteurs du gene br. C. R. Acad. Sei. (Paris) 277, 801 (1973).

    CAS  Google Scholar 

  • Pettifor, J. M., Benson, R.: Congenital malformations associated with the administration of oral anticoagulants during pregnancy. J. Pediat. 86, 459 (1975).

    Article  PubMed  CAS  Google Scholar 

  • Poswillo, D.: The pathogenesis of the first and second branchial arch syndrome. Oral Surg. 35, 302 (1973).

    Article  PubMed  CAS  Google Scholar 

  • Refetoff, S., De Groot, L. J., Bernard, B., De Wind, L. T.: Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. Metabolism 21, 723 (1972).

    Article  PubMed  CAS  Google Scholar 

  • Saunders, J. W., Jr.: Death in embryonic systems. Science 154, 604 (1966).

    Article  PubMed  Google Scholar 

  • Saxén, L., Rapola, J.: Congenital Defects. New York-Toronto-London: Holt, Reinhart and Winston 1969. Chapter 3.

    Google Scholar 

  • Searle, A. G., Ed.: Mouse News Letter, No. 52, 1975. A private communication. M. R. C. Laboratory animals centre Carshalton Surrey, England.

    Google Scholar 

  • Speidel, B. D., Meadow, S. R.: Maternal epilepsy and abnormalities of the fetus and newborn. Lancet 1972 II, 839.

    Article  Google Scholar 

  • Staats, J.: Subject-Strain bibliography listing. Supplement to Mouse News Letter, No. 51, A. G. Searle, Ed., the Jackson Laboratory, Bar Harbor, Maine 1975.

    Google Scholar 

  • Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Eds.: The Metabolic Basis of Inherited Disease, 2nd edition, New York-London: McGraw-Hill 1966.

    Google Scholar 

  • Stern, C: Principles of Human Genetics, 3rd edition. San Francisco: Freeman 1973. Chapter 13.

    Google Scholar 

  • Wiesner, E.: Die Erbschäden der landwirtschaftlichen Nutztiere. Jena: Gustav Fischer 1960.

    Google Scholar 

  • Wilson, J. G.: Environment and Birth Defects. New York-London: Academic Press 1973. Chapter 4.

    Google Scholar 

  • Witkop, C. J., White, J. G., King, R. A.: Oculocutaneous albinism, chapter 11. Heritable Disorders of Amino Acid Metabolism, W. C. Nyhan, Ed. New York: John Wiley and Sons 1974.

    Google Scholar 

  • Wright, S.: Evolution and the Genetics of Populations, vol. 1, p. 95. Chicago: University of Chicago Press 1968.

    Google Scholar 

  • Zwilling, E.: The development of dominant rumplessness in chick embryos. Genet. 27, 641 (1942).

    CAS  Google Scholar 

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Authors
  1. K. S. Brown
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Editors and Affiliations

  1. Guy’s Hospital Medical School, SEI 9RT, London, England

    C. L. Berry M. D., Ph. D. (Lond), M. R. C. Path. (University Reader in Pathology, Hon., Consultant Pathologist) (University Reader in Pathology, Hon., Consultant Pathologist)

  2. Guy’s Hospital, SEI 9RT, London, England

    C. L. Berry M. D., Ph. D. (Lond), M. R. C. Path. (University Reader in Pathology, Hon., Consultant Pathologist) (University Reader in Pathology, Hon., Consultant Pathologist)

  3. Royal College of Surgeons of England, Lincoln’s Inn Fields, London, England

    D. E. Poswillo D. Sc., F. D. S. R. C. S., F. D. S. R. C. S., M. R. C. Path. (Professor of Teratology, Consultant Oral and Maxillo-facial Surgeon) (Professor of Teratology, Consultant Oral and Maxillo-facial Surgeon)

  4. Queen Victoria Hospital, East Grinstead, England

    D. E. Poswillo D. Sc., F. D. S. R. C. S., F. D. S. R. C. S., M. R. C. Path. (Professor of Teratology, Consultant Oral and Maxillo-facial Surgeon) (Professor of Teratology, Consultant Oral and Maxillo-facial Surgeon)

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© 1975 Springer-Verlag Berlin · Heidelberg

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Brown, K.S. (1975). Animal Models of Major Gene Defects. In: Berry, C.L., Poswillo, D.E. (eds) Teratology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-66172-3_3

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  • DOI: https://doi.org/10.1007/978-3-642-66172-3_3

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-66174-7

  • Online ISBN: 978-3-642-66172-3

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