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  • 18th International Mouse Genome Conference (2004)
    Mammalian Genetics and Genomics Group Life Sciences Division Oak Ridge National Laboratory 3 Department of Psychiatry University of Pennsylvania The functional unit l71Rl has been defined as a peri implantation lethal locus by complementation analysis of deficiencies in the p region of mouse Chromosome 7 Previous characterization of the genomic region indicated that the l71Rl interval contains 4 genes including the Cytoplasmic FMRP Fragile X Mental Retardation Protein interacting protein 1 Cyfip1 also known as Shyc or Sra 1 Cyfip1 was considered to be the most likely candidate gene among the four to cause the peri implantation lethal phenotype Subsequently a Cyfip1 gene trap ES cell line was identified in the BayGenomics gene trap ES cell clone library and heterozygous Cyfip1 GT mice were generated from the chimeric mice derived from a Cyfip1 gene trap ES cell clone However Cyfip1 GT GT homozygotes do not show peri implantation lethality Instead the homozygous Cyfip1 GT GT embryos implant and the development appears normal until 7 5 8 5 dpc after which the embryos manifest abnormalities and remain in lordotic position The mutant embryos are subsequently disintegrating after 10 5 dpc Previously two N ethyl N nitrosourea ENU induced embryonic lethal mutations

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file76.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    are usually deficient and hypocortisolism occasionally develops Surprisingly some patients initially have normal pituitary size or hyperplasia that resolves to hypoplasia later in childhood We investigated the mechanism of PROP1 action using mice with altered PROP1 levels including the spontaneous mutant known as Ames dwarf Ser83Pro a genetically engineered null mutant that deletes the homeodomain of this transcription factor and a transgenic over expressor of PROP1 Many features of the human patients are mimicked in PROP1 deficient mice Adult mutant mice are consistently deficient in GH TSH PRL LH and FSH although there is no evidence of acquired ACTH deficiency through the first year of life The genetic background has a profound influence on the mutant phenotype which can include lethal respiratory distress syndrome juvenile wasting associated with hypoglycemia or viable adult dwarfism PROP1 expression peaks in mice during early embryonic development and decreases to barely detectable levels by birth Despite the transient fetal specific expression the total mass of the pituitary prirmordium is nearly indistinguishable in normal and PROP1 deficient mice until a week after birth The mutant mice develop pituitary hypoplasia eventually because proliferating progenitor cells are unable to migrate ventrally into the anterior lobe of the organ

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file77.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    Kingdom Holoprosencephaly HPE is a relatively common disorder involving the incomplete development and septation of midline structures in the central nervous system It has an incidence as high as 1 250 in embryogenesis but only 1 16 000 of live births due to intrauterine lethality Clinical features vary widely in the more extreme cases these may include a single brain ventricle and severe facial anomalies such as cyclopia with a proboscis a single nostril nose and cleft lip and in less severe cases mild facial dysmorphia may be observed such as a single front incisor and or narrowly spaced eyes A number of genes have been linked to HPE in humans and several are members of the Sonic hedgehog SHH and BMP signaling pathways including Sonic hedgehog Hedgehog interacting protein Patched Smoothened Gli Wnt BMP Nodal Smads One eyed pinhead and TG interacting factor In addition mutations in ZIC2 a mammalian gene homologous to the Drosophila pair rule gene odd paired can also give rise to HPE in humans We have previously isolated and partially characterized a murine Zic2 mutant called kumba Zic2 ku which has a point mutation in the fourth C2H2 zinc finger domain Zic2 ku ku homozygotes

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file78.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    B 2 Beier DR 1 1 Genetics Division Harvard Medical School Brigham Women s Hospital Boston United States 2 Wadsworth Center NYS Department of Health Albany United States 3 Genetics Division Harvard Medical School Brigham Women s Hospital Boston United States Here we report the characterization of an ENU induced mutant mouse we call shorty srt that was identified in a screen for late embryonic developmental phenotypes The mutant has a severe malformation of the thoracic vertebrae and is lacking several ribs The development of the lumbar vertebrae appears to be normal as do the long bones The defect is lethal and the affected pups are usually stillborn and smaller in size than wild type littermates The phenotype of srt is similar to a group of human disorders called spondylocostal dysostosis characterised by abnormal vertebral segmentation The phenotype is similar to that of pudgy pu which is caused by a mutation in Dll3 a Notch ligand Our mapping analysis has excluded the possibility that srt is an allele of pu since the mutation have been localised to mouse chromosome 17 in a 1 47 MB region in the interval between D17Mit34 and D17Mit11 by genetic mapping The region is within

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file245.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    is an HDL associated enzyme that metabolizes organophosphorous OP pesticides drugs and oxidized lipids PON1 activity is determined in part by a coding region polymorphism Q192R that affects its catalytic efficiency and in part by differences in PON1 levels which vary widely 13 fold To assess the importance of the Q192R polymorphism for OP detoxication during development transgenic mice were used that expressed human transgenes encoding hPON1 Q192 or hPON1

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file79.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    translation efficiency There is increasing evidence that targeted gene disruption of specific ribosomal protein genes is lethal in embryos prior to implantation Because high levels of HIP RPL29 are found in embryonic stem ES cells and in all types of proliferating and developing tissues we hypothesize that the presence of HIP RPL29 is essential for normal early embryonic growth In particular we believe that a strict regulation of HIP RPL29 expression is required to maintain proliferation and avoid commitment of stem cell progenitors to specific cellular differentiation programs To investigate the role of HIP RPL29 expression during early development we targeted one of the two alleles of Hip RPl29 gene in a pluripotent mouse ES cell line of the 129S7 background Mutant ES cell contribution was assessed in vivo by breeding chimeras obtained after microinjection of Hip Rpl29 ES cells into C57BL 6N host blastocysts Our results show that Hip Rpl29 ES cells display a dramatically reduced germ cell potential Thus a significant number of chimeric males highly derived from the ES cell line as determined by the strong contribution of the dominant Agouti gene to their coat color primarily transmitted C57Bl 6N sperm to their progeny This result suggests

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file80.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    effort to enable more comprehensive expression profiling studies of mouse embryos and stem cells we have created a 60 mer oligo microarray platform with coverage of all genes and transcripts identified in the NIA Mouse Gene Index 2 0 The NIA Gene Index combines genome assembly sequence public EST libraries and human curated genetic databases to form structure models of over 40 000 genetic loci Every transcript model in the index is represented on the microarray by at least one in situ synthesized 60 mer oligonucleotide probe for a total of 40 503 genes and 43 830 transcripts Dose response linearity was evaluated with extremely high correlation correlationmedian r 0 98 with 50 of values between 0 99 and 0 93 between predicted and observed expression log ratios and a compact distribution of regressions median slope 0 94 with 50 of values between 1 0 and 0 97 While we have used similar microarrays to generate very reliable relative expression data in the past we have not been able to estimate the absolute copy numbers of mouse transcripts information which is critical to interpreting expression data as well as to making decisions about follow up studies of signature genes A

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file81.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    a 40 Mb region of mouse chromosome 5 delineated by the Rump white Rw inversion The recessive phenotype apt1 anterior posterior transformation 1 formally known as L5Jcs1 was originally identified as an embryonic lethal based on the loss of class at wean Studies now show that mice homozygous for the mutation develop to around e18 5 days but are either born dead or survive until around one day post partum A more detailed analysis of the skeleton of apt1 mice revealed a posterior to anterior transformation of the thoracic and lumbar vertebrae similar to abnormalities seen in a number of Hox gene knockouts Specifically the eighth rib thoracic segment 8 T8 is attached to the sixth sternabra and the first lumbar vertebra L1 shows the development of a fourteenth rib Judging by the rib length it also appears that the ninth to the thirteenth thoracic segments T9 13 are potentially transformed into more anterior structures Recombination mapping carried out in collaboration with Dr Maja Bucan s lab Univ Penn Philadelphia localised apt1 to a 6 3 Mb region on proximal mouse chromosome 5 between D5Mit353 and D5Mit107 In combination with recombinational mapping mapping by complementation was also carried out to

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file82.shtml (2016-02-17)
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