Walter Pretsch

Summary

Affiliation: GSF-National Research Center for Environment and Health
Country: Germany

Publications

  1. ncbi request reprint Glutathione reductase activity deficiency in homozygous Gr1a1Neu mice does not cause haemolytic anaemia
    W Pretsch
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany
    Genet Res 73:1-5. 1999
  2. ncbi request reprint Genetic, biochemical, and molecular characterization of nine glyceraldehyde-3-phosphate dehydrogenase mutants with reduced enzyme activity in Mus musculus
    Walter Pretsch
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Ingolstadter Landstr 1, D 85764, Neuherberg, Germany
    Mamm Genome 18:686-92. 2007
  3. ncbi request reprint Enzyme-activity mutants in Mus musculus. I. Phenotypic description and genetic characterization of ethylnitrosourea-induced mutations
    W Pretsch
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Ingolstadter Landstrasse 1, D 85764 Neuherberg, Germany
    Mamm Genome 11:537-42. 2000
  4. ncbi request reprint A comparison of enzyme activity mutation frequencies in germ cells of mice (Mus musculus) and golden hamsters (Mesocricetus auratus) after exposure to 2 + 2 Gy gamma-irradiation
    W Pretsch
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Ingolstädter Landstrabetae 1, D 85764 Neuherberg, Germany
    Mutagenesis 15:39-43. 2000
  5. pmc Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculus
    Jack Favor
    Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, D 85764 Neuherberg, Germany
    Genetics 179:1345-55. 2008
  6. pmc Analysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypes
    Jack Favor
    Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Ingolstädter Lanstrasse 1 D 85764, Neuherberg, Germany
    Genetics 182:1077-88. 2009
  7. ncbi request reprint Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters
    Jochen Graw
    Institute of Developmental Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 46:4671-83. 2005
  8. pmc Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of
    Jack Favor
    Institute of Human Genetics, GSF National Research Center for Environment and Health, D 85764 Neuherberg, Germany
    Genetics 175:725-36. 2007
  9. ncbi request reprint Electroretinography as a screening method for mutations causing retinal dysfunction in mice
    Claudia Dalke
    GSF National Research Center for Environment and Health, Institutes of Developmental Genetics, Clinical Cooperation Group Ophthalmogenetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 45:601-9. 2004
  10. doi request reprint Triosephosphate isomerase activity-deficient mice show haemolytic anaemia in homozygous condition
    Walter Pretsch
    Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, D 85764 Neuherberg, Germany
    Genet Res (Camb) 91:1-4. 2009

Collaborators

Detail Information

Publications30

  1. ncbi request reprint Glutathione reductase activity deficiency in homozygous Gr1a1Neu mice does not cause haemolytic anaemia
    W Pretsch
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany
    Genet Res 73:1-5. 1999
    ..Erythrocyte and organo-somatic indices did not show differences between wild-types and homozygous mutants, indicating no association between the GR deficiency and haemolytic anaemia in this potential animal model...
  2. ncbi request reprint Genetic, biochemical, and molecular characterization of nine glyceraldehyde-3-phosphate dehydrogenase mutants with reduced enzyme activity in Mus musculus
    Walter Pretsch
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Ingolstadter Landstr 1, D 85764, Neuherberg, Germany
    Mamm Genome 18:686-92. 2007
    ....
  3. ncbi request reprint Enzyme-activity mutants in Mus musculus. I. Phenotypic description and genetic characterization of ethylnitrosourea-induced mutations
    W Pretsch
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Ingolstadter Landstrasse 1, D 85764 Neuherberg, Germany
    Mamm Genome 11:537-42. 2000
    ..Genetic and biochemical characterizations were routinely performed. These mutants provide insight into the mechanism of ENU mutagenesis and can serve as models for structure-function studies of the corresponding enzymes...
  4. ncbi request reprint A comparison of enzyme activity mutation frequencies in germ cells of mice (Mus musculus) and golden hamsters (Mesocricetus auratus) after exposure to 2 + 2 Gy gamma-irradiation
    W Pretsch
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Ingolstädter Landstrabetae 1, D 85764 Neuherberg, Germany
    Mutagenesis 15:39-43. 2000
    ..A critical assumption for the extrapolation of experimental mutagenesis studies to humans is that no species effects exist in sensitivity to mutation induction by irradiation. Our results do not contradict this assumption...
  5. pmc Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculus
    Jack Favor
    Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, D 85764 Neuherberg, Germany
    Genetics 179:1345-55. 2008
    ....
  6. pmc Analysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypes
    Jack Favor
    Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Ingolstädter Lanstrasse 1 D 85764, Neuherberg, Germany
    Genetics 182:1077-88. 2009
    ..Our results suggest that deletion of Rcn1 directly or indirectly contributes to the eye phenotype in Pax6 contiguous gene deletions...
  7. ncbi request reprint Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters
    Jochen Graw
    Institute of Developmental Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 46:4671-83. 2005
    ..To characterize three new mouse small-eye mutants detected during ethylnitrosourea mutagenesis programs...
  8. pmc Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of
    Jack Favor
    Institute of Human Genetics, GSF National Research Center for Environment and Health, D 85764 Neuherberg, Germany
    Genetics 175:725-36. 2007
    ..We suggest that the spontaneous intraorbital hemorrhages observed in the mouse are a clinically relevant phenotype with a relatively high predictive value to identify carriers of COL4A1 or COL4A2 mutations...
  9. ncbi request reprint Electroretinography as a screening method for mutations causing retinal dysfunction in mice
    Claudia Dalke
    GSF National Research Center for Environment and Health, Institutes of Developmental Genetics, Clinical Cooperation Group Ophthalmogenetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 45:601-9. 2004
    ..To detect mice with hereditary retinal impairment, a high-throughput electroretinography (ERG) screening system was established...
  10. doi request reprint Triosephosphate isomerase activity-deficient mice show haemolytic anaemia in homozygous condition
    Walter Pretsch
    Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, D 85764 Neuherberg, Germany
    Genet Res (Camb) 91:1-4. 2009
    ..As a potential animal model, Tpi1(a-m6Neu) represents the only available TPI-deficient homozygous viable mouse mutation...
  11. ncbi request reprint The mouse Cat4 locus maps to chromosome 8 and mutants express lens-corneal adhesion
    J Favor
    Institute of Mammalian Genetics, GSF National Research Center for Environment and Health, Ingolstadter Landstr 1, D 85764 Neuherberg, Germany
    Mamm Genome 8:403-6. 1997
    ..Thus, on the basis of phenotype and map position, Cat4 may be a mouse model of human ASOD. The genes Junb, Jund1, Mel, and Zfp42 are discussed as possible candidates for Cat4...
  12. ncbi request reprint Molecular analysis of two new Steel mutations in mice shows a transversion or an insertion
    J Graw
    GSF Forschungszentrum für Umwelt und Gesundheit, Neuherberg, Institut fur Saugetiergenetik, Oberschleibetaheim, Germany
    Mamm Genome 7:843-6. 1996
  13. ncbi request reprint A precise localization of a mouse gene encoding increased phosphoglycerate mutase activity (Pgam1e1) on chromosome 19
    W Pretsch
    GSF Forschungszentrum für Umwelt und Gesundheit GmbH, Institut fur Saugetiergenetik, Neuherberg, Ingolstadter Landstrasse 1, D 85764 Oberschleissheim, Germany
    Mamm Genome 7:619. 1996
  14. ncbi request reprint Detection of a point mutation (A to G) in exon 5 of the murine Mgf gene defines a novel allele at the Steel locus with a weak phenotype
    J Graw
    Institute of Mammalian Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
    Mutat Res 382:75-8. 1997
    ..This single amino acid exchange is outside of the known important domains of MGF and explains the weak phenotype of MgfSl-3Neu...
  15. pmc Hereditary lactate dehydrogenase A-subunit deficiency as cause of early postimplantation death of homozygotes in Mus musculus
    S Merkle
    Institut fur Saugetiergenetik, GSF Forschungszentrum für Umwelt und Gesundheit GmbH, Neuherberg, Germany
    Genetics 131:413-21. 1992
    ..The distinct physiological consequences of the total absence of a functioning LDH-A subunit in mice and humans are discussed.(ABSTRACT TRUNCATED AT 250 WORDS)..
  16. ncbi request reprint Molecular analysis of four lactate dehydrogenase-A mutants in the mouse
    R Sandulache
    Institut fur Saugetiergenetik, GSF Forschungszentrum für Umwelt und Gesundheit, Neuherberg, Oberschleissheim, Germany
    Mamm Genome 5:777-80. 1994
    ..All ENU-induced mutations were A/T-->G/C transitions. The mutation events could be correlated with the biochemical and physiological alterations observed in affected mice...
  17. pmc A mutation affecting the lactate dehydrogenase locus Ldh-1 in the mouse. II. Mechanism of the LDH-A deficiency associated with hemolytic anemia
    W Pretsch
    GSF Forschungszentrum für Umwelt und Gesundheit, Institut fur Saugetiergenetik, Neuherberg, Germany
    Genetics 135:161-70. 1993
    ..This discrepancy is likely due to the fact that in human erythrocytes both LDH-A and LDH-B subunits are expressed such that homozygotes for a LDH-A or LDH-B deficiency would not result in a comparably extreme LDH activity deficiency...
  18. ncbi request reprint Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes
    N Klopp
    Institute of Mammalian Genetics, GSF National Research Center for Environment and Health, Neuherberg, D 85764, Germany
    Genomics 52:152-8. 1998
    ..All three mutations are predicted to alter protein folding of the gamma-crystallins and result in lens cataract, but the phenotype for each is quite distinctive...
  19. ncbi request reprint A second locus encoding elevated phosphoglycerate mutase activity (Pgam2e) maps to mouse chromosome 4
    W Pretsch
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Ingolstadter Landstrasse 1, D 85764 Neuherberg, Germany
    Mamm Genome 8:296-7. 1997
  20. pmc The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney
    J Favor
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Oberschleissheim, Germany
    Proc Natl Acad Sci U S A 93:13870-5. 1996
    ..The mid-hindbrain phenotype is similar to Wnt1 and En1 mutant phenotypes, suggesting the conservation of gene regulatory networks between vertebrates and Drosophila...
  21. ncbi request reprint Glucose-6-phosphate isomerase deficiency associated with nonspherocytic hemolytic anemia in the mouse: an animal model for the human disease
    S Merkle
    GSF Forschungszentrum für Umwelt und Gesundheit, Institut fur Saugetiergenetik, Neuherberg, Germany
    Blood 81:206-13. 1993
    ....
  22. pmc Mutation in intron 6 of the hamster Mitf gene leads to skipping of the subsequent exon and creates a novel animal model for the human Waardenburg syndrome type II
    Jochen Graw
    GSF National Research Center for Environment and Health, Institute of Developmental Genetics, D 85764 Neuherberg, Germany
    Genetics 164:1035-41. 2003
    ..Therefore, the Wh(V203) hamster mutant provides a novel model for this particular syndrome...
  23. ncbi request reprint Characterization of two electrophoretic lactate dehydrogenase-A mutants in Mus musculus
    S Merkle
    GSF Forschungszentrum für Umwelt und Gesundheit GmbH, Institut fur Saugetiergenetik, Neuherberg, Germany
    Biochem Genet 30:49-59. 1992
    ....
  24. ncbi request reprint Close linkage of the dominant cataract mutations (Cat-2) with Idh-1 and cryge on mouse chromosome 1
    J Loster
    GSF Forschungszentrum für Umwelt und Gesundheit GmbH, Institut fur Saugetiergenetik, Neuherberg, Germany
    Genomics 23:240-2. 1994
    ....
  25. ncbi request reprint A glucosephosphate isomerase (GPI) null mutation in Mus musculus: evidence that anaerobic glycolysis is the predominant energy delivering pathway in early post-implantation embryos
    S Merkle
    GSF Institut für Säugetiergenetik, Neuherberg, Germany
    Comp Biochem Physiol B 101:309-14. 1992
    ..Furthermore, they indicate that anaerobic glycolysis primarily supplies the metabolic energy used by early post-implantation mouse embryos...
  26. ncbi request reprint Molecular, genetic and biochemical characterization of lactate dehydrogenase-A enzyme activity mutations in Mus musculus
    W Pretsch
    GSF National Research Center for Environment and Health, Institute for Mammalian Genetics, Neuherberg, Germany
    Mamm Genome 9:144-9. 1998
    ..Each of the sequence alterations has a potential impact on the structure of the LDHA protein, which is consistent with the decreased LDH activity and biochemical and physiological alterations...
  27. ncbi request reprint An ENU-induced mutation in Rs1h causes disruption of retinal structure and function
    Monica M Jablonski
    Department of Ophthalmology, University of Tennessee Health Science Center and Tennessee Mouse Genome Consortium, Memphis, TN, USA
    Mol Vis 11:569-81. 2005
    ..Herein we present its retinal phenotype and genetic basis...
  28. ncbi request reprint Redox imbalance and mutagenesis in spleens of mice harboring a hypomorphic allele of Gpdx(a) encoding glucose 6-phosphate dehydrogenase
    Klaus Felix
    Laboratory of Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Free Radic Biol Med 34:226-32. 2003
    ..These findings indicate that G6PD is required for limiting oxidative mutagenesis in the mouse spleen. Gpdx(a-m2Neu) is the first hypomorphic allele of a mouse housekeeping gene associated with elevated somatic mutagenesis in vivo...
  29. ncbi request reprint Moderate G6PD deficiency increases mutation rates in the brain of mice
    Klaus Felix
    Laboratory of Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892 4255, USA
    Free Radic Biol Med 32:663-73. 2002
    ..These findings suggested a critical function for G6PD in limiting oxidative mutagenesis in the mouse brain...
  30. ncbi request reprint Moderate hypermutability of a transgenic lacZ reporter gene in Myc-dependent inflammation-induced plasma cell tumors in mice
    Klaus Felix
    Laboratory of Genetics, Center for Cancer Research, National Cancer Institute, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA
    Cancer Res 64:530-7. 2004
    ..These findings suggested that the hypermutability of PCT is governed mainly by intrinsic features of tumor cells, not by deregulated Myc or chronic inflammation...