Research Topics
Genomes and GenesSpecies | J FavorSummaryAffiliation: GSF-National Research Center for Environment and Health Country: Germany Publications
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Publications
The mutagenic activity of ethylnitrosourea at low doses in spermatogonia of the mouse as assessed by the specific-locus testJ Favor
Institute of Mammalian Genetics, GSF Research Center for Environment and Health, D 85758, Neuherberg, Germany
Mutat Res 405:221-6. 1998..This is interpreted to be due to the differences between a mathematical abstraction and the biological realities of the system being studied...- The effect of the interval between dose applications on the observed specific-locus mutation rate in the mouse following fractionated treatments of spermatogonia with ethylnitrosoureaJ Favor
Institute of Mammalian Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
Mutat Res 374:193-9. 1997..Biologically plausible explanations of the discrepancy are presented... 
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...- Mechanisms of mutation induction in germ cells of the mouse as assessed by the specific locus testJ Favor
Institute of Mammalian Genetics, GSF Research Center for Environment and Health, Ingolstadter Landstr 1, D 85764, Neuherberg, Germany
Mutat Res 428:227-36. 1999..e) With the cloning of all 7 marker loci mutation analysis at the molecular level will allow a more direct assessment of the mutation process in future studies... - Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculusJ Favor
Institute of Mammalian Genetics, GSF Research Center for Environment and Health, Ingolstadter Landstr 1, D 85764 Neuherberg, Germany
Mamm Genome 11:520-5. 2000.... - Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculusJ Favor
Institute of Mammalian Genetics, GSF Research Center for Environment and Health, Neuherberg D 85764, Germany
Genetics 159:1689-700. 2001..Pax6(7Neu) is a base pair substitution in the Kozak sequence and results in a reduced level of Pax6 translation product. The Pax6(4Neu) and Pax6(7Neu) alleles may be very useful for gene-dosage studies... - Transmitted mutational events induced in mouse germ cells following acrylamide or glycidamide exposureJack Favor
Institute of Human Genetics, GSF National Research Center for Environment and Health, Ingolstadter Landstrasse 1, D 85764 Neuherberg, Germany
Mutat Res 580:21-30. 2005..This discrepancy should be resolved. Finally, it is noted that no experiments have studied the mutagenic potential of acrylamide to increase the frequency of transmitted mutational events following exposure in the female germ line... - Aphakia (ak), a mouse mutation affecting early eye development: fine mapping, consideration of candidate genes and altered Pax6 and Six3 gene expression patternC Grimm
GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany
Dev Genet 23:299-316. 1998..As a consequence of the arrested lens development, other ocular tissues that require for their development information from the intact lens, such as iris, ciliary muscle, retina, and vitreous body, are absent or formed abnormally... - The mouse Cat4 locus maps to chromosome 8 and mutants express lens-corneal adhesionJ 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... - 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 kidneyJ 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... - Molecular, genetic and biochemical characterization of lactate dehydrogenase-A enzyme activity mutations in Mus musculusW 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... - Loss of heterozygosity at the dilute-short ear (Myo5a-Bmp5) region of the mouse: mitotic recombination or double non-disjunction?J Favor
Institute of Mammalian Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
Genet Res 72:199-204. 1998..Our results indicate the mutational event to be due to mitotic recombination and not double non-disjunction... - Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculusJack Favor
Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, D 85764 Neuherberg, Germany
Genetics 179:1345-55. 2008.... - Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genesN 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... - Molecular analysis of four lactate dehydrogenase-A mutants in the mouseR 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... - A mutation affecting the lactate dehydrogenase locus Ldh-1 in the mouse. II. Mechanism of the LDH-A deficiency associated with hemolytic anemiaW 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... - A precise localization of a mouse gene encoding increased phosphoglycerate mutase activity (Pgam1e1) on chromosome 19W Pretsch
, , Neuherberg, , D-85764 Oberschleissheim, Germany
Mamm Genome 7:619. 1996 - 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-irradiationW 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... - Electroretinography as a screening method for mutations causing retinal dysfunction in miceClaudia 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..CONCLUSIONS: The present results demonstrate the feasibility of ERG for screening a large number of mice to detect animals with functional retinal impairment... 
Novel allele of crybb2 in the mouse and its expression in the brainKoustav Ganguly
Institutes of Developmental Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany
Invest Ophthalmol Vis Sci 49:1533-41. 2008..O377 was identified as a new dominant cataract mutation in mice after radiation experiments. The purpose of this study was to genetically characterize the mutation and to analyze its biological consequences...- Pleiotropic effects in Eya3 knockout miceTorben Soker
Helmholtz Center Munich, German Research Center for Environmental Health, Institute of Developmental Genetics, Neuherberg, Germany
BMC Dev Biol 8:118. 2008..The functions of its mammalian orthologs Eya1-4 are only partially understood and no mouse model exists for Eya3. Therefore, we characterized the phenotype of a new Eya3 knockout mouse mutant... - A second locus encoding elevated phosphoglycerate mutase activity (Pgam2e) maps to mouse chromosome 4W Pretsch
GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, , D-85764 Neuherberg, Germany
Mamm Genome 8:296-7. 1997 - Analysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypesJack 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... - Recommendations for statistical designs of in vivo mutagenicity tests with regard to subsequent statistical analysisI D Adler
GSF Institut für Säugetiergenetik, D 85758 Neuherberg, Germany
Mutat Res 417:19-30. 1998..Use of negative historical controls was allowed in certain circumstances for interpretation of results from micronucleus tests and chromosomal aberration tests... - Ethylnitrosourea-induced base pair substitution affects splicing of the mouse gammaE-crystallin encoding gene leading to the expression of a hybrid protein and to a cataractJochen Graw
GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, D 85764 Neuherberg, Germany
Genetics 161:1633-40. 2002..Histological analysis of the cataractous lenses indicated that the expression of the new protein disrupts the cellular structure of the eye lens... - Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) miceMichael Rosemann
Institute of Radiation Biology, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany
Mamm Genome 21:13-27. 2010..It is the first mouse mutant carrying a point mutation within the coding region of Pitx3... - Genetic, biochemical, and molecular characterization of nine glyceraldehyde-3-phosphate dehydrogenase mutants with reduced enzyme activity in Mus musculusWalter 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.... - A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouseJochen Graw
National Research Center for Environment and Health Forschungszentrum für Umwelt und Gesundheit, Institute of Mammalian Genetics, Neuherberg, Germany
Invest Ophthalmol Vis Sci 43:236-40. 2002..The purpose of this study was to establish the linkage of the mutation to a particular chromosome to allow molecular characterization. Moreover, the mutants were examined morphologically... - Multilocus inheritance determines predisposition to alpha-radiation induced bone tumourigenesis in miceMichael Rosemann
Institute of Pathology, Clinical Cooperation Group Osteosarcoma, GSF National Research Center for Environment and Health, Neuherberg, Germany
Int J Cancer 118:2132-8. 2006..This mechanism can be of particular importance in genetically heterogeneous populations such as man... - Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promotersJochen 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... - Bone tumorigenesis induced by alpha-particle radiation: mapping of genetic loci influencing predisposition in miceMichael Rosemann
Institute of Pathology at the GSF National Research Center for Environment and Health, Neuherberg, Germany
Radiat Res 157:426-34. 2002..This study demonstrates the presence of a genetic component that modulates predisposition to radiation-induced osteosarcoma... - Molecular dissection of Pax6 function: the specific roles of the paired domain and homeodomain in brain developmentNicole Haubst
GSF National Research Center for Environment and Health, Institute for Stem Cell Research, Neuherberg, Germany
Development 131:6131-40. 2004..These results therefore demonstrate a key role of the PD in brain development and implicate splicing as a pivotal factor regulating the potent neurogenic role of Pax6... - Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouseJochen Graw
Institute of Developmental Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
Invest Ophthalmol Vis Sci 45:1202-13. 2004..The purpose of this study was the characterization of eight new dominant cataract mutations... - Crygf(Rop): the first mutation in the Crygf gene causing a unique radial lens opacityJochen Graw
National Research Center for Environment and Health GSF, Institute of Mammalian Genetics, Neuherberg, Germany
Invest Ophthalmol Vis Sci 43:2998-3002. 2002..The Rop (radial opacity) mutation, which was recovered in a mutagenicity screen after paternal treatment with procarbazine, was analyzed to determine phenotype, chromosomal localization, candidate genes, and molecular lesion... - Hereditary lactate dehydrogenase A-subunit deficiency as cause of early postimplantation death of homozygotes in Mus musculusS 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).. - Defects of neuronal migration and the pathogenesis of cortical malformations are associated with Small eye (Sey) in the mouse, a point mutation at the Pax-6-locusW Schmahl
Institut fur Pathologie, GSF Forschungszentrum für Umwelt und Gesundheit, Neuherberg, Germany
Acta Neuropathol 86:126-35. 1993..Consequently, there is an impairment of the peripheral migration of putative neurons so that the neonatal lesion pattern of the neocortical roof becomes dominated by a broad spectrum of neuronal migration disorders... - Variations of eye size parameters among different strains of miceOliver Puk
Institutes of Developmental Genetics, GSF-National Research Center for Environment and Health, D-85764, Neuherberg, Germany
Mamm Genome 17:851-7. 2006..Finally, wild-type intervals (mean +/- 3 SD) for axial length, anterior chamber depth, and cornea and lens thicknesses were calculated allowing a quick identification of pathologic outliers... - Systemic first-line phenotypingValerie Gailus-Durner
Institute of Experimental Genetics, Helmholtz Zentrum Munchen, Neuherberg, Germany
Methods Mol Biol 530:463-509. 2009..Using the example of the German Mouse Clinic (GMC) we will introduce the reader to the different aspects of the organization of a mouse clinic and present selected methods used in first-line phenotyping... - A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA bindingMary F Lyon
Mammalian Genetics Unit, Harwell, Didcot, OX11 0RD, UK
Hum Mol Genet 12:585-94. 2003..The Ofl mutant therefore provides a valuable model system for the study of Maf, and its interacting factors, in normal and abnormal lens and anterior segment development... - Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb budOttheinz Krebs
Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig Maximilian University, Munich, Germany
Development 130:6037-47. 2003..We propose that the double anterior zeugopod and symmetrical central polydactyly are due to an increased and uniform concentration of the Gli3 repressor form because of lowered Shh signaling... - Vesico-ureteric reflux and urinary tract development in the Pax2 1Neu+/- mouseInga J Murawski
Department of Pediatrics, Montreal Children s Hospital, McGill University, Quebec, Canada
Am J Physiol Renal Physiol 293:F1736-45. 2007..Our results provide the first evidence that VUR may arise from a delay in urinary tract maturation and an explanation for the clinical observation that VUR resolves over time in some affected children... - Pax2.1 is required for the development of thyroid follicles in zebrafishThomas Wendl
Institute for Developmental Biology, University of Cologne, Gyrhofstrasse 17, D 50923 Köln, Germany
Development 129:3751-60. 2002..Thus, in zebrafish, some remaining thyroid hormone synthesis takes place independent of the pathway leading to thyroid follicle formation. We suggest that the noi(-/-) mutant serves as a new zebrafish model for hypothyroidism... - Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutantNabanita Nag
Section on Molecular Structure and Functional Genomics, National Eye Institute, National Institutes of Health, Building 7, Room 201 Bethesda, MD 20892, USA
Genomics 89:512-20. 2007..However, the severity of cataract is also strain dependent suggesting that genetic background modifiers also play a role in the development of opacity... - Pax2 mutant mice display increased number and size of islets of Langerhans but no change in insulin and glucagon contentMaia Zaiko
Diabetes Unit, Department of Medicine, University Hospital Geneva, 24 Micheli du Crest, 1211 Geneva, Switzerland
Eur J Endocrinol 150:389-95. 2004..We have concluded that Pax2 may be implicated in the prenatal determination of the relative proportion of the endocrine and exocrine tissues of the pancreas... - Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoformKristen M Huang
F M Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania School of Medicine, Philadelphia, USA
Hum Mol Genet 15:319-27. 2006..Inhibition of expression of the exon 1 containing isoform results in the abnormal phenotype of Xcat... - Organization and annotation of the Xcat critical region: elimination of seven positional candidate genesKristen M Huang
F M Kirby Center for Molecular Ophthalmology, University of Pennsylvania School of Medicine, 422 Curie Boulevard, Philadelphia, PA 19104, USA
Genomics 83:893-901. 2004..The expression of Rai2 was quantitatively identical in wild-type and Xcat mutant eyes. These results indicate that the Xcat mutation is within a novel, undiscovered gene... - Genetic and phenotypic analysis of Tcm, a mutation affecting early eye developmentKen S Wang
F M Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania School of Medicine, Stellar Chance Bldg Rm 315, 422 Curie Blvd, Philadelphia, Pennsylvania 19104, USA
Mamm Genome 16:332-43. 2005..These results indicate that the causitive Tcm mutation falls within a noncoding regulatory region of one of the five candidate genes or in an undescribed gene... - An ENU-induced mutation in Rs1h causes disruption of retinal structure and functionMonica 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... - Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcificationTertius A Hough
Mammalian Genetics Unit and Mary Lyon Centre, Medical Research Council, Harwell, Oxfordshire OX11 0RD, United Kingdom
Proc Natl Acad Sci U S A 101:13566-71. 2004.... - Molecular interaction between projection neuron precursors and invading interneurons via stromal-derived factor 1 (CXCL12)/CXCR4 signaling in the cortical subventricular zone/intermediate zoneMarie Catherine Tiveron
Institut de Biologie du Developpement de Marseille Luminy, Centre National de la Recherche Scientifique Université de Mediterranée, 13288 Marseille, France
J Neurosci 26:13273-8. 2006..These results represent the first evidence for a molecular interaction between precursors of projection neurons and invading interneurons during corticogenesis... - "Sighted C3H" mice--a tool for analysing the influence of vision on mouse behaviour?Sabine M Hoelter
Institute of Developmental Genetics, Helmholtz Center Munich German Research Center for Environmental Health GmbH, 85764 Neuherberg, Germany
Front Biosci 13:5810-23. 2008..These results emphasize the importance of comprehensive behavioural and physiological phenotyping... - Introducing the German Mouse Clinic: open access platform for standardized phenotypingValerie Gailus-Durner
Nat Methods 2:403-4. 2005