E M Rinchik

Summary

Affiliation: Oak Ridge National Laboratory
Country: USA

Publications

  1. pmc Functional annotation of mammalian genomic DNA sequence by chemical mutagenesis: a fine-structure genetic mutation map of a 1- to 2-cM segment of mouse chromosome 7 corresponding to human chromosome 11p14-p15
    Eugene M Rinchik
    Life Sciences Division, Oak Ridge National Laboratory, P O Box 2009, Oak Ridge, TN 37831 8077, USA
    Proc Natl Acad Sci U S A 99:844-9. 2002
  2. ncbi request reprint Identification of mutations from phenotype-driven ENU mutagenesis in mouse chromosome 7
    Cymbeline T Culiat
    Life Sciences Division, Oak Ridge National Laboratory, Bethel Valley Road, P O Box 2008, Oak Ridge, Tennessee, 37831 6445, USA
    Mamm Genome 16:555-66. 2005
  3. pmc Efficient gene-driven germ-line point mutagenesis of C57BL/6J mice
    Edward J Michaud
    Life Sciences Division, Oak Ridge National Laboratory, P, O, Box 2008, Oak Ridge, TN 37831, USA
    BMC Genomics 6:164. 2005
  4. pmc N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations
    E M Rinchik
    Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831 8077, USA
    Genetics 152:373-83. 1999
  5. ncbi request reprint Developing genetic reagents to facilitate recovery, analysis, and maintenance of mouse mutations
    E M Rinchik
    Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831 8077, USA
    Mamm Genome 11:489-99. 2000
  6. pmc Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor
    C T Culiat
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077
    Proc Natl Acad Sci U S A 90:5105-9. 1993
  7. pmc Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus
    D K Johnson
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077, USA
    Genetics 141:1563-71. 1995
  8. pmc A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077
    Proc Natl Acad Sci U S A 87:896-900. 1990
  9. ncbi request reprint Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice
    M Walkowicz
    Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831 8077, USA
    Mamm Genome 10:870-8. 1999
  10. pmc Molecular genetics of the brown (b)-locus region of mouse chromosome 4. II. Complementation analyses of lethal brown deletions
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077
    Genetics 137:855-65. 1994

Research Grants

Collaborators

Detail Information

Publications35

  1. pmc Functional annotation of mammalian genomic DNA sequence by chemical mutagenesis: a fine-structure genetic mutation map of a 1- to 2-cM segment of mouse chromosome 7 corresponding to human chromosome 11p14-p15
    Eugene M Rinchik
    Life Sciences Division, Oak Ridge National Laboratory, P O Box 2009, Oak Ridge, TN 37831 8077, USA
    Proc Natl Acad Sci U S A 99:844-9. 2002
    ....
  2. ncbi request reprint Identification of mutations from phenotype-driven ENU mutagenesis in mouse chromosome 7
    Cymbeline T Culiat
    Life Sciences Division, Oak Ridge National Laboratory, Bethel Valley Road, P O Box 2008, Oak Ridge, Tennessee, 37831 6445, USA
    Mamm Genome 16:555-66. 2005
    ..Our data demonstrate that rapid mutation scanning with TGCE, followed by sequence verification only of detected positives, is an efficient approach to the identification of point mutations in the mouse genome...
  3. pmc Efficient gene-driven germ-line point mutagenesis of C57BL/6J mice
    Edward J Michaud
    Life Sciences Division, Oak Ridge National Laboratory, P, O, Box 2008, Oak Ridge, TN 37831, USA
    BMC Genomics 6:164. 2005
    ..The advantage of such an approach is that it allows one to select any gene of interest in the mouse genome and to go directly from DNA sequence to mutant mice...
  4. pmc N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations
    E M Rinchik
    Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831 8077, USA
    Genetics 152:373-83. 1999
    ..g., locus mutability, failure to saturate, number of gametes to screen, allelic series) of concern when application of chemical mutagenesis screens to megabase regions of the mouse genome is considered...
  5. ncbi request reprint Developing genetic reagents to facilitate recovery, analysis, and maintenance of mouse mutations
    E M Rinchik
    Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831 8077, USA
    Mamm Genome 11:489-99. 2000
    ..Also discussed are several issues concerning genetic background, particularly from the point of view of genetic-reagent resource development...
  6. pmc Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor
    C T Culiat
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077
    Proc Natl Acad Sci U S A 90:5105-9. 1993
    ....
  7. pmc Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus
    D K Johnson
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077, USA
    Genetics 141:1563-71. 1995
    ....
  8. pmc A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077
    Proc Natl Acad Sci U S A 87:896-900. 1990
    ..It is also yielding additional mutations useful in dissecting the functional and molecular complexity of this segment of chromosome 7...
  9. ncbi request reprint Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice
    M Walkowicz
    Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831 8077, USA
    Mamm Genome 10:870-8. 1999
    ..These data provide new molecular clues regarding the wide range of jdf2 and p phenotypes that are expressed by this collection of recently generated and classical p-region mutations...
  10. pmc Molecular genetics of the brown (b)-locus region of mouse chromosome 4. II. Complementation analyses of lethal brown deletions
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077
    Genetics 137:855-65. 1994
    ..The placement of these new functionally defined loci on the evolving molecular map of the b region should be useful for continuing the analysis of the roles played in development by genes in this segment of chromosome 4...
  11. pmc Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077, USA
    Proc Natl Acad Sci U S A 92:6394-8. 1995
    ..We also predict that a homologous single locus, quite possibly tightly linked and distal to the D15S12 (P) locus in human chromosome 15q11-q13, may be associated with similar developmental abnormalities in humans...
  12. pmc Deletion mapping of four loci defined by N-ethyl-N-nitrosourea-induced postimplantation-lethal mutations within the pid-Hbb region of mouse chromosome 7
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077
    Genetics 135:1117-23. 1993
    ..Phenotypic and genetic analyses of these mutations should provide useful information on the functional composition of the corresponding segment of the human genome (perhaps human 11q13.5)...
  13. pmc Molecular genetics of the brown (b)-locus region of mouse chromosome 4. I. Origin and molecular mapping of radiation- and chemical-induced lethal brown deletions
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077
    Genetics 137:845-54. 1994
    ..The resulting deletion map provides a framework on which to build future molecular-genetic and biological analyses of this region of mouse chromosome 4...
  14. pmc Molecular analysis of radiation-induced albino (c)-locus mutations that cause death at preimplantation stages of development
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077
    Genetics 135:1107-16. 1993
    ..Extension of physical maps from D7Rn6 should provide access both to the pid region and to loci mapping distal to pid that are defined by N-ethyl-N-nitrosourea-induced lethal mutations...
  15. pmc Genetic and molecular analysis of chlorambucil-induced germ-line mutations in the mouse
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077
    Proc Natl Acad Sci U S A 87:1416-20. 1990
    ....
  16. ncbi request reprint N-ethyl-N-nitrosourea-induced prenatally lethal mutations define at least two complementation groups within the embryonic ectoderm development (eed) locus in mouse chromosome 7
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077
    Mamm Genome 4:349-53. 1993
    ..The mapping of the loci defined by these mutations is likely to be useful for genetic, molecular, and phenotypic characterization of the eed region, and mutations at either locus (or both loci) may contribute to the eed phenotype...
  17. pmc Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice
    C T Culiat
    Biology Division, University of Tennessee Oak Ridge Graduate School of Biomedical Sciences, Oak Ridge National Laboratory, TN 37831 8077
    Proc Natl Acad Sci U S A 91:2815-8. 1994
    ..The absence of an overt neurological phenotype in mice lacking the gamma 3 and/or alpha 5 subunits also suggests that mutations in these genes are unlikely to provide useful animal models for Angelman syndrome in humans...
  18. ncbi request reprint An integrated deletion and physical map encompassing l71Rl, a chromosome 7 locus required for peri-implantation survival in the mouse
    M Wu
    Life Sciences Division, University of Tennessee Oak Ridge, Oak Ridge, Tennessee 37831 8077, USA
    Genomics 67:228-31. 2000
    ..This map defines the minimum critical interval for l71Rl as an 80- to 300-kb region. This sequence-ready deletion/physical map should enable the cloning and characterization of the l71Rl gene(s)...
  19. ncbi request reprint Reverse genetics in the mouse and its application to the study of deafness
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077
    Ann N Y Acad Sci 630:80-92. 1991
    ..Thus, the wi locus has been located within a chromosome 4 interval defined by structural rearrangements, which should likewise aid in identifying closely linked molecular clones...
  20. ncbi request reprint Induced mouse chromosomal rearrangements as tools for identifying critical developmental genes and pathways
    C T Culiat
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077, USA
    Reprod Toxicol 11:345-51. 1997
    ..As an illustration of this approach, we briefly review our progress in the study of three mutations associated with defects in palate development, juvenile growth, fitness and sterility, and neurologic development in mice, respectively...
  21. ncbi request reprint Molecular analysis of viable spontaneous and radiation-induced albino (c)-locus mutations in the mouse
    E M Rinchik
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077
    Mutat Res 286:199-207. 1993
    ....
  22. ncbi request reprint Clustering of six human 11p15 gene homologs within a 500-kb interval of proximal mouse chromosome 7
    L Stubbs
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077
    Genomics 24:324-32. 1994
    ..These data, together with recent mapping studies within the related region of HSA11p15, demonstrate that gene content and organization within this proximal homology segment have been highly conserved throughout evolution...
  23. ncbi request reprint Physical analysis of murine albino deletions that disrupt liver-specific gene regulation or mesoderm development
    M L Klebig
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077
    Mamm Genome 2:51-63. 1992
    ..Therefore, the viable deletions can be exploited to generate additional DNA probes that should facilitate the isolation of breakpoint clones from chromosomes carrying lethal deletions defining hsdr-1 and msd...
  24. pmc Mutations in the clathrin-assembly gene Picalm are responsible for the hematopoietic and iron metabolism abnormalities in fit1 mice
    Mitchell L Klebig
    Department of Biochemistry and Cellular and Molecular Biology, University of Tennessee, Knoxville, TN 37996, USA
    Proc Natl Acad Sci U S A 100:8360-5. 2003
    ..These mutants thus provide unique models for exploring how the endocytic function of mouse Picalm and the transport processes mediated by clathrin and the AP2 complex contribute to normal hematopoiesis, iron metabolism, and growth...
  25. ncbi request reprint Deficiency of the beta 3 subunit of the type A gamma-aminobutyric acid receptor causes cleft palate in mice
    C T Culiat
    Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077, USA
    Nat Genet 11:344-6. 1995
    ..We now show that such transgenic mice are phenotypically normal, indicating that Gabrb3 is indeed the cp1 locus...
  26. pmc Genetic, cytogenetic, and molecular analyses of mutations induced by melphalan demonstrate high frequencies of heritable deletions and other rearrangements from exposure of postspermatogonial stages of the mouse
    L B Russell
    Biology Division, Oak Ridge National Laboratory, TN 37831 8077
    Proc Natl Acad Sci U S A 89:6182-6. 1992
    ..Melphalan, like chlorambucil, can generate many mutations, a high proportion of which are deletions and other rearrangements, making this chemical valuable for generating mutations (at any locus) amenable to molecular access...
  27. pmc The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears
    Sarah E Mentzer
    Mammalian Genetics and Genomics Group, Life Sciences Division, Oak Ridge National Laboratory, PO Box 2008, Bethel Valley Road, Oak Ridge, TN 37831 6445, USA
    Vet Dermatol 19:358-67. 2008
    ..The increased hair length on the ears of Eh/+ mice was due to an extension of the anagen stage in the hair cycle, as determined by histological analysis. Our data indicate that the Eh phenotype arises from mis-expression of Hoxc genes...
  28. ncbi request reprint Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects
    Jayashree Desai
    Graduate School for Genome Science and Technology, University of Tennessee Oak Ridge National Laboratory, 1060 Commerce Park, Oak Ridge, TN 37831, USA
    Hum Mol Genet 15:1329-41. 2006
    ....
  29. 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...
  30. pmc Modification of an existing chromosomal inversion to engineer a balancer for mouse chromosome 15
    Wallace S H Chick
    Graduate School of Genome Sciences and Technology, Cellular and Molecular Biology, The University of Tennessee, Knoxville, 37996, USA
    Genetics 167:889-95. 2004
    ..Mice derived from the targeted ES cells carry the inverted chromosome 15 and, at the same time, exhibit lighter coat color on their ears and tails, making this modified In(15)21Rk useful as a balancer for proximal mouse chromosome 15...
  31. ncbi request reprint The Tennessee Mouse Genome Consortium: identification of ocular mutants
    Monica M Jablonski
    Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN 38163, USA
    Vis Neurosci 22:595-604. 2005
    ..Mice from each of these pedigrees of mutant mice are available for distribution to researchers for independent study...
  32. ncbi request reprint A sensitized screen of N-ethyl-N-nitrosourea-mutagenized mice identifies dominant mutants predisposed to diabetic nephropathy
    Elena E Tchekneva
    Division of Nephrology and Hypertension, Vanderbilt University Medical Center, 21st Avenue S at Garland, Nashville, TN 37232, USA
    J Am Soc Nephrol 18:103-12. 2007
    ..These novel mutants provide new, robust mouse models of DN and should help to elucidate the underlying genetic basis of predisposition to DN...
  33. pmc Single amino acid substitution in aquaporin 11 causes renal failure
    Elena E Tchekneva
    Division of Nephrology, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    J Am Soc Nephrol 19:1955-64. 2008
    ..These results demonstrate that the identified mutation causes renal failure in Aqp11 sjds/sjds mutant mice, providing a model for better understanding of the structure and function of aquaporin 11 in renal physiology...
  34. ncbi request reprint The Polycomb-group gene eed regulates thymocyte differentiation and suppresses the development of carcinogen-induced T-cell lymphomas
    Ellen R Richie
    Department of Carcinogenesis, The University of Texas, M D Anderson Cancer Center, Science Park Research Division, Smithville, Texas 78957, USA
    Oncogene 21:299-306. 2002
    ..These findings support the notion that Polycomb-group genes exert pleiotropic effects dictated by developmental stage and cellular context...
  35. ncbi request reprint X-ray-induced deletion complexes in embryonic stem cells on mouse chromosome 15
    Wallace S H Chick
    Graduate School of Genome Sciences and Technology, The University of Tennessee, Knoxville, Tennessee 37996, USA
    Mamm Genome 16:661-71. 2005
    ..Deletions induced in ES cells by X rays vary in size and location of breakpoints, which makes them desirable for mapping and for functional genomics studies...

Research Grants1

  1. Mutagenesis of the Mammalian Imprinting Process(es)
    Eugene Rinchik; Fiscal Year: 2002
    ..abstract_text> ..