Evidence map›Paper›PMID 21118569›Full record

ArticleBMC genetics2010

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

Yung-Hao Ching, Robert J Munroe, Jennifer L Moran, Anna K Barker, Evan Mauceli, Tim Fennell, Frederica Dipalma, Kerstin Lindblad-Toh, Lindsay M Abcunas, Joyanna F Gilmour and 14 more

Open access · diamondAbstract read
In one paragraph

Article in BMC genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
0.9field-weighted citation impact, top 26% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

18 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Zebrafish as a model for kidney function and disease.Pediatric nephrology (Berlin, Germany) · 2019
    Review
  6. Article
  7. Targeting nuclear thymidylate biosynthesis.Molecular aspects of medicine · 2017
    Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Protein degradation and iron homeostasis.Biochimica et biophysica acta · 2012
    Review
  15. ENU mutagenesis in mice identifies candidate genes for hypogonadism.Mammalian genome : official journal of the International Mammalian Genome Society · 2012
    Article
  16. Article
  17. Article
  18. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors at 2 institutions in 2 countries.

Yung-Hao ChingDepartment of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, New York 14853, USA.
Robert J Munroe
Jennifer L Moran
Anna K Barker
Evan Mauceli
Tim Fennell
Frederica Dipalma
Kerstin Lindblad-Toh
Lindsay M Abcunas
Joyanna F Gilmour
Tanya P Harris
Susan L Kloet
Yunhai Luo
John L McElwee
Weipeng Mu
Hyo K Park
David L Rogal
Kerry J Schimenti
Lishuang Shen
Mami Shindo
James Y Shou
Erin K Stenson
Patrick J Stover
John C Schimenti
Cornell University · USBroad Institute · US

Funding

GENOME FUNCTION IN MOUSE WITH COMBINATION MUTAGENESISR01HD035984 · NICHD · JACKSON LABORATORY · PI SCHIMENTI, JOHN C · 1998 to 2009
$3.9M
Homeostatic Regulation of Folate MetabolismR01DK058144 · NIDDK · CORNELL UNIVERSITY ITHACA · PI STOVER, PATRICK J · 2002 to 2010
$2.9M
NICHD NIH HHS HD35984NIDDK NIH HHS R01 DK058144
6 · The paper itself

Abstract

backgroundForward 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 ~50 Mb region of the mouse genome on proximal Chr 5. The majority of phenotypic mutants recovered were embryonic lethals.

resultsWe 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.

conclusionThis 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.

Indexed as

Chromosome MappingDNA Mutational AnalysisMutationAnimalsChromosomesCloning, MolecularEmbryonic DevelopmentEthylnitrosoureaGenes, LethalGenetic Complementation TestMaleMiceMice, Inbred C57BLSequence DeletionSpermatogenesisEthylnitrosourea

Identifiers

PMID21118569
PMCPMC3009607
OpenAlexW2059847307

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.