High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5

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Fältnamn	Indikatorer	Metadata
000		03601naa a2200577 4500
001		oai:DiVA.org:uu-144518
003		SwePub
008		110131s2010 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1445182 URI
024	7	a https://doi.org/10.1186/1471-2156-11-1062 DOI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Ching, Yung-Hao4 aut
245	1 0	a High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5
264		c 2010-11-30
264	1	b Springer Science and Business Media LLC,c 2010
338		a print2 rdacarrier
520		a Background: Forward genetic screens in mice provide an unbiased means to identify genes and other functional genetic elements in the genome. Previously, a large scale ENU mutagenesis screen was conducted to query the functional content of a similar to 50 Mb region of the mouse genome on proximal Chr 5. The majority of phenotypic mutants recovered were embryonic lethals. Results: We report the high resolution genetic mapping, complementation analyses, and positional cloning of mutations in the target region. The collection of identified alleles include several with known or presumed functions for which no mutant models have been reported (Tbc1d14, Nol14, Tyms, Cad, Fbxl5, Haus3), and mutations in genes we or others previously reported (Tapt1, Rest, Ugdh, Paxip1, Hmx1, Otoe, Nsun7). We also confirmed the causative nature of a homeotic mutation with a targeted allele, mapped a lethal mutation to a large gene desert, and localized a spermiogenesis mutation to a region in which no annotated genes have coding mutations. The mutation in Tbc1d14 provides the first implication of a critical developmental role for RAB-GAP-mediated protein transport in early embryogenesis. Conclusion: This collection of alleles contributes to the goal of assigning biological functions to all known genes, as well as identifying novel functional elements that would be missed by reverse genetic approaches.
653		a MEDICINE
653		a MEDICIN
700	1	a Munroe, Robert J.4 aut
700	1	a Moran, Jennifer L.4 aut
700	1	a Barker, Anna K.4 aut
700	1	a Mauceli, Evan4 aut
700	1	a Fennell, Tim4 aut
700	1	a diPalma, Frederica4 aut
700	1	a Lindblad-Toh, Kerstinu Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)kerli865
700	1	a Abcunas, Lindsay M.4 aut
700	1	a Gilmour, Joyanna F.4 aut
700	1	a Harris, Tanya P.4 aut
700	1	a Kloet, Susan L.4 aut
700	1	a Luo, Yunhai4 aut
700	1	a McElwee, John L.4 aut
700	1	a Mu, Weipeng4 aut
700	1	a Park, Hyo K.4 aut
700	1	a Rogal, David L.4 aut
700	1	a Schimenti, Kerry J.4 aut
700	1	a Shen, Lishuang4 aut
700	1	a Shindo, Mami4 aut
700	1	a Shou, James Y.4 aut
700	1	a Stenson, Erin K.4 aut
700	1	a Stover, Patrick J.4 aut
700	1	a Schimenti, John C.4 aut
710	2	a Uppsala universitetb Institutionen för medicinsk biokemi och mikrobiologi4 org
773	0	t BMC Geneticsd : Springer Science and Business Media LLCg 11, s. 106-q 11<106-x 1471-2156
856	4	u https://bmcgenet.biomedcentral.com/track/pdf/10.1186/1471-2156-11-106
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-144518
856	4 8	u https://doi.org/10.1186/1471-2156-11-106

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