This research project deals with problems of mammalian developmental genetics. In particular it is concerned with the identification of specific genes, both structural and regulatory, which control various aspects of embryonic development and cell differentiation on levels of morphogenesis and biochemistry. Mutations in the mouse affecting development and differentiation serve as tools in these studies. The identification of genetically caused specific developmental defects provides the potential of elucidating the corresponding normal mechanisms of development and their genetic control. Particular attention centers on complex genes, e.g. the T-locus and several lethal albino deletions in the mouse. The latter appear to include a series of regulatory genes concerned specifically with the control of liver cell differentiation. Methods of genetics, developmental biology, biochemistry, somatic cell genetics, electronmicroscopy, cytology and molecular biology serve these studies. The research proposed here provides model systems for the study of birth defects and inborn errors of metabolism in humans. It opens up new views on the etiology of congenital malformations and underscores the genetic heterogeneity of conditions with similar appearances, e.g. glycogen storage diseases.

National Institute of Health (NIH)
National Institute of General Medical Sciences (NIGMS)
Research Project (R01)
Project #
Application #
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Albert Einstein College of Medicine
Schools of Medicine
United States
Zip Code
Lia, M; Bali, D; Gluecksohn-Waelsch, S (1992) Regulatory genes linked to the albino locus in the mouse confer competence for inducible expression on the structural gene encoding serine dehydratase. Proc Natl Acad Sci U S A 89:2453-5
Collins, J C; Buchanan, D N; Thoene, J G et al. (1992) Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities. Biochem Biophys Res Commun 187:340-6
Zaret, K S; Milos, P; Lia, M et al. (1992) Selective loss of a DNase I hypersensitive site upstream of the tyrosine aminotransferase gene in mice homozygous for lethal albino deletions. Proc Natl Acad Sci U S A 89:6540-4
Gluecksohn-Waelsch, S (1992) An overview of developmental genetics in mammals. Curr Opin Genet Dev 2:498-503
Gluecksohn-Waelsch, S; DeFranco, D (1991) Lethal chromosomal deletions in the mouse, a model system for the study of development and regulation of postnatal gene expression. Bioessays 13:557-61
DeFranco, D; Bali, D; Torres, R et al. (1991) The glucocorticoid hormone signal transduction pathway in mice homozygous for chromosomal deletions causing failure of cell type-specific inducible gene expression. Proc Natl Acad Sci U S A 88:5607-10
McKnight, S L; Lane, M D; Gluecksohn-Waelsch, S (1989) Is CCAAT/enhancer-binding protein a central regulator of energy metabolism? Genes Dev 3:2021-4
Donner, M E; Leonard, C M; Gluecksohn-Waelsch, S (1988) Developmental regulation of constitutive and inducible expression of hepatocyte-specific genes in the mouse. Proc Natl Acad Sci U S A 85:3049-51
Gluecksohn-Waelsch, S (1986) Developmental genetics of hepatic gluconeogenic enzymes. Ann N Y Acad Sci 478:101-8
Shaw, P A; Adamany, A M (1986) Glycosylation in livers of newborn mice homozygous for a lethal deletion. Proc Soc Exp Biol Med 183:118-24

Showing the most recent 10 out of 12 publications