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  • The 16th International Mouse Genome Conference (2002)
    LINE OF MICE EXHIBITING AUTOSOMAL RECESSIVE MALE SPECIFIC LETHALITY AND NAFLD A Buchberg Kimmel Cancer Center Co Authors Sollars V McEntee B Engiles J Rothstein J Institutions Kimmel Cancer Center Thomas Jefferson University We have isolated a Meis1a transgenic mouse line exhibiting recessive male specific lethality and non alcoholic fatty liver disease NAFLD which coincides with pubescence and is androgen dependent The phenotype is due to disruption of an endogenous locus since other Meis1a transgenic lines do not exhibit these phenotypes Necropsy analysis revealed hepatic microvesicular steatosis in pubescent male homozygous mice which is absent in transgenic females The average age of death in the males is 39 5 days post partum Rendering the homozygous male mice testosterone insensitive via introducing the ArTfm mutation resulted in the rescue of both the fatty liver and lethal phenotypes The transgene insertion site was cloned by both genomic library and PCR technologies The insertion site is located on proximal mouse chromosome 1 in a region syntenic with Human chromosome 8 Sequence analysis and comparison with the public Mouse genomic sequence database reveals that the integration site disrupts a novel metallo b lactamase gene Lactb2 of unknown function The transgene insertion results in a

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file205.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    M 1 3 Johnson E 1 2 Hill M 2 Kerley M 1 Rainwater L 1 2 Rinchik EM Institutions 1 The University of Tennessee Knoxville 2 Oak Ridge National Laboratory 3 Current address Lexicon Genetics Inc Mice hemi or homozygous for any of five ENU induced mutations at the fit1 locus in Chr 7 are characterized by anemia other hematopoietic abnormalities growth retardation and shortened lifespan Additional study of an intermediate allele fit14226SB demonstrated microcytic hypochromic anemia abnormal iron uptake and transport scoliosis and lumbar vertebral abnormalities The sequence of a BAC clone co mapping with fit1 within the albino Tyr deletion complex revealed it contained the mouse homolog of the human PICALM gene 11q14 which encodes a clathrin assembly protein thought to be important for clathrin mediated endocytosis The human PICALM gene has also been repeatedly associated with a t 10 11 p12 p13 q14 q21 translocation found in some leukemias both ALL and AML and lymphomas where it forms a fusion transcript with the putative transcription factor AF10 on Chr 10 The location of the mouse Picalm gene and the fact that clathrin mediated endocytosis is an important mechanism of iron uptake and transport suggested Picalm as

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file206.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    Deafness and Other Communication Disorders Co Authors Di Palma F Belyantseva I Kim H Kachar B Institutions National Institute on Deafness and Other Communication Disorders Deafness in spontaneously occurring mouse mutants is often associated with defects in cochlea sensory hair cells opening an avenue to systematically identify genes critical for hair cell structure and function The classical semi dominant mouse mutant varitint waddler Va exhibits early onset hearing loss vestibular defects pigmentation abnormalities and perinatal lethality A second allele VaJ arose in a cross segregating for Va Coat color variegation hearing loss and hair cell defects are less severe in VaJ We observe the first signs of inner and outer hair cell defects at embryonic day 17 5 as evident by the disorganized hair bundle Using a positional cloning strategy we identify two new members of the mucolipin gene familiy Mcoln2 and Mcoln3 in the 350kb VaJ minimal interval and provide evidence that Mcoln3 is the gene mutated in varitint waddler Mcoln3 encodes a putative six transmembrane protein with sequence and motif similarities to the family of non selective transient receptor potential TRP ion channels In the Va allele an Ala419Pro substitution occurs in the fifth transmembrane domain of Mcoln3

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file207.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    Pharmacogenetics Sequence Annotation and Comparative Analysis of Genomes Attendees Sponsors Table of Contents Photographs Awards Oral Presentation Monday 18 November 11 30 11 45 HRS A MUTATION IN THE EVI1 LOCUS PREDISPOSES TO LATE ONSET OTITIS MEDIA WITH EFFUSION OME IN THE MOUSE DEAFNESS MODEL Junbo NJ Parkinson MRC Mammalian Genetics Unit and Mouse Genome Centre Co Authors Tsai H T Brooker D MacKenzie F Hardisty R Clements S Glenister P Brown S Institutions MRC Mammalian Genetics Unit and Mouse Genome Centre A genome wide phenotype driven ENU mutagenesis approach was adopted by our facility to describe amongst others novel dominantly inherited single locus deafness disorders in the mouse One such mutant Junbo presents with progressive hearing loss with onset between 40 and 140 days of age Histological examination of affected animals showed that the deafness appears to result from effusive matter filling the middle ear cavity providing evidence that Junbo represents a single locus model of otitis media Among other phenotypic characterstics Junbo also displays partial polydactyly reduced body weight and craniofacial abnormalities Here we report the positional cloning of this mutant and the elucidation of the causal mutation A2318T N763I in the transcription regulator Evi1 and present a

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file208.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    Co Authors Scherbik S Stockman B Li Y Brinton M Institutions Georgia State University Susceptibility to flavivirus infection in mice is controlled by the Flv locus located on mouse chromosome 5 close to the D5Mit159 We used a positional cloning strategy to identify the Flv gene Using a probe designed from the D5Mit159 marker sequence 14 genomic clones were selected from a BAC library Nine genes were identified within these BAC clones by direct cDNA selection and exon trapping Twelve additional genes were identified in the Flv region by searching the Celera mouse database Full length cDNA sequences were obtained from congenic flavivirus resistant and susceptible mouse strains for each of these genes and compared For the majority of the genes only silent substitutions were found between the congenic strains A random distribution of missence substitutions between a number of resistant and susceptible mouse strains was observed for a Na Ca2 exchanger gene indicating that none of these polymorphisms correlated with susceptibility to flaviviruses A C820T transversion in the Oas1b gene of 5 susceptible strains resulted in a premature stop codon and a C terminally truncated gene product that was missing 30 of its sequence In contrast this gene encoded

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file209.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    15 30 15 45 HRS CREATING NEW MOUSE MODELS OF CARDIOVASCULAR DISEASE USING RANDOM MUTAGENESIS S L Adamson Samuel Lunenfeld Research Institute of Mount Sinai Hospital Co Authors Kelsey L Voronina I Milenkovic Z Whiteley J Vukobradovic I and others in the Centre for Modelling Human Disease Institutions Samuel Lunenfeld Research Institute of Mount Sinai Hospital University of Toronto Toronto s Centre for Modelling Human Disease is creating new mouse models of human disease using random mutagenesis C57BL 6J male mice are injected with ethylnitrosourea ENU to generate mutations in sperm then bred with normal C3H HeJ females G1 offspring are screened for cardiovascular and other physiologic abnormalities Outliers are bred to establish heritability Dominant mutations responsible for traits will be localized using a genome scan 3900 mice have undergone physiologic screening since the program began in July 2000 Of this total we screened 2700 for blood pressure and heart rate abnormalities using a tail cuff system 1300 for ascending aortic blood velocity abnormalities using pulsed Doppler while under isoflurane anesthesia and 2200 for hematologic abnormalities hematology analyzer and blood smear Our ECG screen began in July 2002 To date we have identified 25 mice with a variety of heritable

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file210.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    of Contents Photographs Awards Oral Presentation Monday 18 November 15 45 16 00 HRS DEVELOPMENTAL GENETICS OF MOUSE CHROMOSOME 2 R Conlon Case Western Reserve University and University Hospitals Cleveland Co Authors Qian Z Sa X LePage DF Institutions Case Western Reserve University and University Hospitals Cleveland The assignment of functions to genes can be facilitated by chromosomes with deletions or inversions Deletions serve as a tool to uncover the function and interaction of genes directly and indirectly through mapping and screening strategies Inversions balancing genomic regions facilitate screens and the maintenance of mutations Currently the coverage of the mouse genome with engineered chromosomes is limited A program to create deletions covering chromosome 2 and to create a balancer chromosome 2 is underway in our lab These chromosomes are being used to uncover the functions of chromosome 2 genes in early development The genes and mechanisms of preimplantation development implantation and early post implantation development are largely unknown due in part to lack of conservation of these processes in organisms used as research models Our characterization of gene function will focus on these critical stages Deletions and inversions were made by combinations of gene targeting random insertion of vectors and

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file211.shtml (2016-02-17)
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  • The 16th International Mouse Genome Conference (2002)
    1 Moir L 1 Mijat V 1 Hugill A 1 Hough T 1 Mansell S 1 Abdul Hussein S 2 Gray I 2 Hunter J 1 Brown SDM Institutions 1 MRC 2 GlaxoSmithKlein Type 2 diabetes is a complex genetic disease with some rare monogenic subtypes Disease susceptibility and progression is influenced by environmental factors To identify new diabetes genes and develop new mouse models for basic research and for therapeutics development we identified mice with impaired glucose tolerance and diabetes in the Harwell GSK mutagenesis programme We initially selected 14 founder F1 BALB c mutagenised x C3H mice based on free fed blood glucose data that indicated they were 2SDs above the F1 population mean These mice were backcrossed to C3H and their offspring tested in an intraperitoneal glucose tolerance test IPGTT at 12 weeks of age Five lines survived inheritance testing with a robust IPGTT phenotype These are GENAs 263 348 387 389 and 394 All show impaired glucose tolerance in males and with the exception of GENA263 in females as well although to a lesser degree With the exception of GENA263 BC1 males and females at 12weeks of age are statistically significantly heavier than BC1 controls Three

    Original URL path: http://www.imgs.org/Archive/abstracts/2002abstracts/file212.shtml (2016-02-17)
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