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  • 18th International Mouse Genome Conference (2004)
    AUTOMATED DNA PURIFICATION FROM MOUSE TAILS Mulrooney C Howe S Robinson J Oultram J Sayle J Tepnel Life Sciences Manchester United Kingdom The extraction of high quality genomic DNA is the first and often limiting step in the process of mouse tail genotyping Tail snips are difficult samples to work with and most of the chemistries and systems available today fail to consistently produce sufficient DNA of an appropriate quality

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file208.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    mutants used in the study of gene function Using the chemical mutagen N ethyl N nitrosourea ENU we have screened approximately 2000 progeny of chemically mutagenised mice Approximately 5 of all animals screened presented an abnormal phenotype with 1 showing robustly inherited mutant phenotypes Two mutant lines with dominant rhythm phenotypes will be presented here One Play 8 short circuit Sci presents a reduced circadian amplitude a short circadian period in constant darkness 21 4 to 23hrs and a reduced phase shift in response to light This phenotype is reminiscent of some features seen in familial advanced phase sleep syndrome To date intercrosses have been unsuccessful in identifying a homozygous phenotype The mutant locus is a novel circadian locus between 106 9 and 110 5Mb on chromosome 8 A second mutant line Play 68 presents a subtle but significant lengthening of the free running period 24 3hrs compared to 23 6hrs in wt No additional anomalies were observed in heterozygotes Intercrosses revealed an additional class of phenotype in presumptive homozygotes In light dark conditions activity onsets were delayed by approximately 5 hours and free running period in constant darkness was approximately 27 hrs Homozygotes display features of familial delayed sleep

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file209.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    J Davies KE MRC Functional Genetics Unit Oxford United Kingdom We have used ENU mutagenesis to identify new models of neurological disease and have characterised a novel cerebellar mutant named robotic It displays a jerky ataxic gait that is caused by an adult onset loss of Purkinje cells that occurs in a striking region specific pattern The causative mutation was identified in a highly conserved region of the putative transcription factor Af4 and we have shown that this gene is expressed specifically in Purkinje cells Af4 has previously been implicated in leukaemia but its function in the brain is unknown From a yeast two hybrid screen in the brain we identified an ubiquitin ligase as a novel binding partner of Af4 We were able confirm this interaction and demonstrate co localisation of these proteins both in vitro and in vivo In addition quantitative binding assays revealed a highly significant reduction in affinity of this interaction with mutant protein suggesting that normal turnover of Af4 by the proteosome is blocked in the robotic mouse To identify potential targets of Af4 transcriptional regulation a microarray study was carried out using wild type and robotic cerebellar samples across a time course In situ

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file210.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    The Jackson Laboratory Bar Harbor United States We identify and characterize craniofacial disorders in mice to discover genetic and physiological models for human craniofacial dysmorphologies and share these models with the scientific public We screen for spontaneous and induced mutations do comprehensive genetic and characterization studies and identify gene mutations by candidate gene testing and positional cloning We provide notification of new models via our website www jax org cranio offer information and training via our email faces jax org and distribute live mice to investigators worldwide Craniofacial dysmorphologies represent nearly 75 of all human congenital malformations visible in newborns and are a complication in over 700 known human genetic syndromes This diverse group of disorders includes cleft lip and or palate abnormal morphology of the skull face or jaws misshapen or missing teeth plus eye and ear abnormalities with or without impaired sight or hearing Discovery of the genetic cause of such dysmorphologies in humans is difficult due to population heterogeneity and to the diversity of interacting environmental and nutritional variables Consequently animal models with defined genetic backgrounds maintained in controlled environments are critical for craniofacial gene discovery We investigated the heritability of more than 100 craniofacial phenodeviants and

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file211.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    OF ENU GENERATED MUTANTS FOR ANXIETY AND ACTIVITY IN AN OPEN FIELD TEST Pletcher MT Grabowski L Wiltshire T Tarantino L The Genomics Institute of the Novartis Research Foundation San Diego United States The determination of the complex genetic interactions that control behavioral phenotypes has been slow to progress In an attempt to exploit new technologies to unravel aspects of behavioral genetics a forward genetics screen was established to identify phenotypic outliers in an open field test from a population of offspring from ENU mutagenized mice Values were collected for percent time spent in the center of the open field total distance traveled percent time resting amounts of continuous motion average velocity and total rearing Percent time spent in the center of the open field and average velocity show good correlation as a marker of anxiety in the mice while total distance traveled percent time resting and amounts of continuous motion track potential hyperactive phenotypes 456 ENU mutagenized families have been screened by this method with 30 being identified as outliers for anxiety and 19 having abnormal activity levels To date 4 have been found to be heritable for one of the phenotypes screened The two lines that have been

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file212.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    School of Medicine Baltimore United States Ts65Dn mice display several phenotypic similarities to Down syndrome DS including craniofacial dysmorphology a distinguishing feature found in all DS individuals Neural crest cells NCC contribute prominently to the craniofacial skeleton affected in DS and the Ts65Dn mouse Because many tissues affected in DS have a NCC component it has been hypothesized that trisomy 21 causes a defect in NCC However no direct experiments have proven or disproven an effect on NCC in DS To examine the hypothesis that trisomy affects NCC and therefore contributes to the etiology of DS craniofacial dysmorphology we bred Ts65Dn mice with mice homozygous for the Wnt1 lacZ transgene which is expressed predominantly in NCC at embryonic day 9 5 E9 5 Ts65Dn x Wnt1 lacZ offspring were dissected at E9 5 and exhibited lacZ marked cranial NCC Trisomic and euploid embryos were identified by FISH analysis of the yolk sac and age matched by somite number Although the frequency of Ts65Dn at weaning is 25 30 we observed no deviation from Mendelian ratios at E9 5 Additionally the average somite number in E9 5 trisomic and euploid mice was not significantly different and provided no evidence for developmental

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file213.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    that control position growth cycle and type of hair Since most of the genes regulating hair have not been determined we took a genetics based approach to identify genes involved in hair formation An ENU mutagenesis project was initiated to screen mice for a variety of abnormalities including hair problems Mutagenized C57BL 6 males were bred to produce dominant and recessive mutants A new dominant mutant was found which exhibited hair loss starting between 14 and 21 days of age Affected animals undergo progressive rounds of hair loss ending with hair only around the snout legs and base of the tail To map the Hairloss gene affected mice were outcrossed to DBA 2J mice to produce F1s F2 mice were generated by backcrossing affected F1 mice to DBA 2J mice DNA from 50 Hairloss and 50 wild type F2 mice were pooled by phenotype and amplified with 103 microsatellite markers equally spaced across the genome and polymorphic for C57BL 6 and DBA 2J alleles Hairloss was mapped initially from 213 F2 mice to distal mouse Chromosome 11 between D11Mit39 and D11Mit181 Individual genotyping identified 35 recombinants between the linked markers A tiered mapping approach was used to narrow down the

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file214.shtml (2016-02-17)
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  • 18th International Mouse Genome Conference (2004)
    known previously as Mtll Tailless Tll Tlx show nervous system specific abnormalities including pathological aggression It is unknown however whether human NR2E1 is similarly involved in the modulation of development and behavior To test the ability of human NR2E1 to modulate behavior we generated mice carrying human NR2E1 under the control of its endogenous regulatory elements and bred them to fierce mutants that lack mouse Nr2e1 The presence of human

    Original URL path: http://www.imgs.org/Archive/abstracts/2004abstracts/abs/file215.shtml (2016-02-17)
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