Search Results - "Rinchik, EM"

Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects by Desai, Jayashree, Shannon, Mark E., Johnson, Mahlon D., Ruff, David W., Hughes, Lori A., Kerley, Marilyn K., Carpenter, Donald A., Johnson, Dabney K., Rinchik, Eugene M., Culiat, Cymbeline T.

“…The mammalian Nell1 gene encodes a protein kinase C-β1 (PKC-β1) binding protein that belongs to a new class of cell-signaling molecules controlling cell growth…”
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Sequence interpretation. Functional annotation of mouse genome sequences by Nadeau, J H, Balling, R, Barsh, G, Beier, D, Brown, S D, Bucan, M, Camper, S, Carlson, G, Copeland, N, Eppig, J, Fletcher, C, Frankel, W N, Ganten, D, Goldowitz, D, Goodnow, C, Guenet, J L, Hicks, G, Hrabe de Angelis, M, Jackson, I, Jacob, H J, Jenkins, N, Johnson, D, Justice, M, Kay, S, Kingsley, D, Lehrach, H, Magnuson, T, Meisler, M, Poustka, A, Rinchik, E M, Rossant, J, Russell, L B, Schimenti, J, Shiroishi, T, Skarnes, W C, Soriano, P, Stanford, W, Takahashi, J S, Wurst, W, Zimmer, A

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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 by Rinchik, Eugene M, Carpenter, Donald A

“…An interval of mouse chromosome (Chr) 7 surrounding the albino (Tyr; c) locus, and corresponding to a long 6- to 11-cM Tyr deletion, has been the target of a…”
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The Polycomb-group gene eed regulates thymocyte differentiation and suppresses the development of carcinogen-induced T-cell lymphomas by Richie, E R, Schumacher, A, Angel, J M, Holloway, M, Rinchik, E M, Magnuson, T

“…The mouse Polycomb-group gene, embryonic ectoderm development (eed), appears to regulate cellular growth and differentiation in a developmental and tissue…”
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Mutations in the Clathrin-Assembly Gene Picalm Are Responsible for the Hematopoietic and Iron Metabolism Abnormalities in fit1 Mice by Klebig, Mitchell L., Wall, Melissa D., Potter, Mark D., Rowe, Erica L., Carpenter, Donald A., Rinchik, Eugene M.

“…Recessive N-ethyl-N-nitrosourea (ENU)-induced mutations recovered at the fitness-1 (fit1) locus in mouse chromosome 7 cause hematopoietic abnormalities, growth…”
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An ENU-induced mutation in Rs1h causes disruption of retinal structure and function by Jablonski, Monica M, Dalke, Claudia, Wang, XiaoFei, Lu, Lu, Manly, Kenneth F, Pretsch, Walter, Favor, Jack, Pardue, Machelle T, Rinchik, Eugene M, Williams, Robert W, Goldowitz, Daniel, Graw, Jochen

“…The 44TNJ mutant mouse was generated by the Tennessee Mouse Genome Consortium (TMGC) using an ENU-based mutagenesis screen to produce recessive mutations that…”
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A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism by Rinchik, E M, Bultman, S J, Horsthemke, B, Lee, S T, Strunk, K M, Spritz, R A, Avidano, K M, Jong, M T, Nicholls, R D

“…The mouse pink-eyed dilution (p) locus on chromosome 7 is associated with defects of skin, eye and coat pigmentation. Mutations at p cause a reduction of…”
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Efficient gene-driven germ-line point mutagenesis of C57BL/6J mice by Michaud, Edward J, Culiat, Cymbeline T, Klebig, Mitchell L, Barker, Paul E, Cain, K T, Carpenter, Debra J, Easter, Lori L, Foster, Carmen M, Gardner, Alysyn W, Guo, Z Y, Houser, Kay J, Hughes, Lori A, Kerley, Marilyn K, Liu, Zhaowei, Olszewski, Robert E, Pinn, Irina, Shaw, Ginger D, Shinpock, Sarah G, Wymore, Ann M, Rinchik, Eugene M, Johnson, Dabney K

“…Analysis of an allelic series of point mutations in a gene, generated by N-ethyl-N-nitrosourea (ENU) mutagenesis, is a valuable method for discovering the full…”
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Effects of ENU dosage on mouse strains by Justice, Monica J, Carpenter, Don A, Favor, Jack, Neuhauser-Klaus, Angelika, Hrabé de Angelis, Martin, Soewarto, Dian, Moser, Amy, Cordes, Sabine, Miller, Darla, Chapman, Verne, Weber, John S, Rinchik, Eugene M, Hunsicker, Patricia R, Russell, William L, Bode, Vernon C

“…The germline supermutagen, N-ethyl-N-nitrosourea (ENU), has a variety of effects on mice. ENU is a toxin and carcinogen as well as a mutagen, and strains…”
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The Ancestral Gene for Transcribed, Low-Copy Repeats in the Prader-Willi/Angelman Region Encodes a Large Protein Implicated in Protein Trafficking, Which Is Deficient in Mice with Neuromuscular and Spermiogenic Abnormalities by Ji, Yonggang, Walkowicz, Mitchell J., Buiting, Karin, Johnson, Dabney K., Tarvin, Rocio E., Rinchik, Eugene M., Horsthemke, Bernhard, Stubbs, Lisa, Nicholls, Robert D.

“…Transcribed, low-copy repeat elements are associated with the breakpoint regions of common deletions in Prader-Willi and Angelman syndromes. We report here the…”
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Developing genetic reagents to facilitate recovery, analysis, and maintenance of mouse mutations by Rinchik, E M

“…Because the mouse has become the pre-eminent model system for functional genomics and analysis of complex-systems/pathways in mammals, there has been an…”
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Imprinting of a RING Zinc-Finger Encoding Gene in the Mouse Chromosome Region Homologous to the Prader-Willi Syndrome Genetic Region by Jong, Michelle T. C., Carey, Alisoun H., Caldwell, Kim A., Lau, Michel H., Handel, Mary Ann, Driscoll, Daniel J., Stewart, Colin L., Rinchik, Eugene M., Nicholls, Robert D.

“…A novel locus in the human Prader-Willi syndrome (PWS) region encodes the imprinted ZNF127 and antisense ZNF127AS genes. Here, we show that the mouse ZNF127…”
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Point Mutations in the Murine Fumarylacetoacetate Hydrolase Gene: Animal Models for the Human Genetic Disorder Hereditary Tyrosinemia Type 1 by Aponte, Jennifer L., Sega, Gary A., Hauser, Loren J., Dhar, Madhu S., Withrow, Catherine M., Carpenter, Donald A., Rinchik, Eugene M., Culiat, Cymbeline T., Johnson, Dabney K.

“…Hereditary tyrosinemia type 1 (HT1) is a severe autosomal recessive metabolic disease associated with point mutations in the human fumarylacetoacetate…”
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Deficiency of the beta 3 subunit of the type A gamma-aminobutyric acid receptor causes cleft palate in mice by Culiat, C T, Stubbs, L J, Woychik, R P, Russell, L B, Johnson, D K, Rinchik, E M

“…In addition to its function in the nervous system, gamma-aminobutyric acid (GABA) has been implicated in mouse craniofacial development by the results of both…”
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Modification of an Existing Chromosomal Inversion to Engineer a Balancer for Mouse Chromosome 15 by Chick, Wallace S. H, Mentzer, Sarah E, Carpenter, Donald A, Rinchik, Eugene M, You, Yun

“…Chromosomal inversions are valuable genetic tools for mutagenesis screens, where appropriately marked inversions can be used as balancer chromosomes to recover…”
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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 by Rinchik, Eugene M., Carpenter, Donald A., Johnson, Dabney K.

“…Eleven independent, recessive, N-ethyl-N-nitrosourea-induced mutations that map to a ≈1- to 2-cM region of mouse chromosome (Chr) 7 homologous to human Chr…”
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X-ray-induced deletion complexes in embryonic stem cells on mouse chromosome 15 by Chick, Wallace S H, Mentzer, Sarah E, Carpenter, Donald A, Rinchik, Eugene M, Johnson, Dabney, You, Yun

“…Chromosomal deletions have long been used as genetic tools in dissecting the functions of complex genomes, and new methodologies are still being developed to…”
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The Tennessee Mouse Genome Consortium: identification of ocular mutants by Jablonski, Monica M, Wang, Xiaofei, Lu, Lu, Miller, Darla R, Rinchik, Eugene M, Williams, Robert W, Goldowitz, Daniel

“…The Tennessee Mouse Genome Consortium (TMGC) is in its fifth year of a ethylnitrosourea (ENU)-based mutagenesis screen to detect recessive mutations that…”
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Chemical mutagenesis and fine-structure functional analysis of the mouse genome by Rinchik, E M

“…Heritable mutations constitute important raw materials for mammalian developmental genetics and general genome studies. Mutations induced by high-efficiency…”
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Overexpression of cyclin D1 in mouse skin carcinogenesis by Bianchi, A B, Fischer, S M, Robles, A I, Rinchik, E M, Conti, C J

“…Recent studies have provided evidence suggesting that disruption of cyclin function may play a critical role in tumorigenesis. Cyclin D1, a putative G1 cyclin…”
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