Summary
The Splotch mutant mouse shows defects in neural crest-derived cell populations. The septation of the truneus arteriosus and the development of the aortic arch-derived blood vessels was studied in homozygotes of the Splotch mutant allele Sp1H. It is shown that in homozygous mutant embryos, the septation of the truncus arteriosus does not proceed normally, resulting in persistent truncus arteriosus. The ostium of the persistent truncus arteriosus opens to the right ventricle. Frequently, variations of the aortic arch-derived blood vessels are observed. The development of the thymus, the parathyroid and the ultimobranchial bodies are also variably affected in mutants.
These results provide indirect evidence, that cells contributing to the aortic arches and the septum of the truncus arteriosus in mice are derived from the neural crest. The Splotch mutant mouse is proposed to be an animal model for persistent truncus arteriosus. The implications of the vascular malformations for the midgestational death of this mutant are discussed.
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References
Auerbach R (1954) Analysis of the developmental effects of a lethal mutation in the house mouse. J Exp Zool 127:305–329
Bacchus C, Sterz H, Buselmaier W, Sahai S, Winking H (1987) Genesis and systematization of cardiovascular anomalies and analysis of skeletal malformations in murine trisomy 16 and 19. Hum Genet 77:12–22
Beechey C, Searle AG (1986) Mutations at the Sp locus. Mouse News Lett 77:28
Besson III WT, Kirby ML, Van Mierop LHS, Teabeaut JR (1986) Effects of the size of lesions of the cardiac neural crest at various embryonic ages on incidence and type of cardiac defects. Circulation 73:360–364
Bockman DE, Kirby ML (1984) Dependence of thymus development on derivatives of the neural crest. Science 223:498–500
Bruyere HJ, Nishikawa T, Uno H, Gilbert J, Gilbert EF (1987) Experimentally induced cardiovascular malformations in the chick embryo. Part I Morphologic and physiologic changes in the embryonic chick heart after caffeine administration. Birth Defects 23:443–448
Collett RW, Edwards JE (1949) Persistent truncus arteriosus: Classification according to anatomic types. Surg Clin North Am 29:1245–1270
Cordier AC, Haumont SM (1980) Development of thymus, parathyroids and ultimobranchial bodies in NMRI and nude mice. Am J Anat 157:227–263
Dickie MM (1964) New splotch alleles in the mouse. J Hered 55:97–101
Franz T (1989) Defective ensheathment of motoric nerves in the Splotch mutant mouse. Acta Anat (in press)
Grant RP (1962a) The embryology of the ventricular flow pathways in man. Circulation 25:756–779
Grant RP (1962b) The morphogenesis of the transposition of the great vessels. Circulation 26:819–840
Gray SW, Skandalakis JE (1972) Embryology for surgeons; The embryological basis for the treatment of congenital defects. Saunders, Philadelphia London Toronto
Grüneberg H (1954) Genetical studies on the skeleton of the mouse. VIII Curly-tail. J Genet 52:52–67
Johnson DR (1967) Extra-toes: a new mutant gene causing multiple abnormalities in the mouse. J Embryol Exp Morphol 17:543–581
Kirby ML, Gale TF, Stewart DE (1983) Neural crest cells contribute to normal aorticopulmonary septation. Nature 220:1059–1061
Le Douarin N (1982) The neural crest. Cambridge University Press, Cambridge, UK, p 69
Nishibatake M, Kirby ML, Van Mierop LHS (1987) Pathogenesis of persistent truncus arteriosus and dextroposed aorta in the chick embryo after neural crest ablation. Circulation 75:255–264
Phillips MT, Kirby ML, Forbes G (1987) Analysis of cranial neural crest distribution in the developing heart using quail-chick chimeras. Circ Res 60:27–30
Russell WL (1947) Splotch a new mutation in the house mouse, Mus musculus. Genetics 32:[Abstr] 102
Taleporos P, Salgo MP, Oster G (1978) Teratogenic action of a bis(dichloroacetyl)diamine on rats: patterns of malformations produced in high incidence at time-limited periods of development. Teratology 18:5–16
Theiler K (1972) The house mouse. Springer, Berlin Heidelberg New York
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Franz, T. Persistent truncus arteriosus in the Splotch mutant mouse. Anat Embryol 180, 457–464 (1989). https://doi.org/10.1007/BF00305120
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DOI: https://doi.org/10.1007/BF00305120