Editing International Mouse Phenotyping Consortium

{{infobox biodatabase
|title = International Mouse Phenotyping Consortium
|logo = [[File:International Mouse Phenotyping Consortium logo.jpg|200px]]
|description = Encyclopaedia of [[phenotype]]s from knockout mice.
|scope =
|organism =[[House mouse|Mouse]]
|center = 
|laboratory = 
|author =
|citation = Brown and Moore, 2012<ref name="pmid22566555"/>
|released = 2011
|standard =
|format =
|url =http://www.mousephenotype.org
|download =
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The '''International Mouse Phenotyping Consortium''' (IMPC) is an international scientific endeavour to create and characterize the [[phenotype]] of 20,000 [[knockout mouse]] strains.<ref name="pmid22566555">{{cite journal |author=[[Stephen D. M. Brown|Brown SD]], Moore MW |title=Towards an encyclopaedia of mammalian gene function: the International Mouse Phenotyping Consortium |journal=Dis Model Mech |volume=5 |issue=3 |pages=289–92 |date=May 2012 |pmid=22566555 |pmc=3339821 |doi=10.1242/dmm.009878 |url=}}</ref><ref name="pmid22940749">{{cite journal |author=[[Stephen D. M. Brown|Brown SD]], Moore MW |title=The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping |journal=Mamm. Genome |volume=23 |issue=9–10 |pages=632–40 |date=October 2012 |pmid=22940749 |doi=10.1007/s00335-012-9427-x |url= |pmc=3774932}}</ref><ref name="pmid23195311">{{cite journal |vauthors=Morgan H, Simon M, Mallon AM |title=Accessing and mining data from large-scale mouse phenotyping projects |journal=Int. Rev. Neurobiol. |volume=104 |issue= |pages=47–70 |year=2012 |pmid=23195311 |doi=10.1016/B978-0-12-398323-7.00003-3 |url= |series=International Review of Neurobiology |isbn=9780123983237}}</ref> Launched in September 2011,<ref name="pmid22566555"/> the consortium consists of over 15 research institutes across four continents with funding provided by the [[NIH]], European national governments and the partner institutions.<ref name="pmid22422677">{{cite journal |vauthors=Schofield PN, Hoehndorf R, Gkoutos GV |title=Mouse genetic and phenotypic resources for human genetics |journal=Hum. Mutat. |volume=33 |issue=5 |pages=826–36 |date=May 2012 |pmid=22422677 |doi=10.1002/humu.22077 |url= |pmc=3473354}}</ref>

The initiative is projected to take 10 years (until 2021), and will focus on analysing [[homozygous]] [[mutant]] mice generated on an isogenic [[C57BL/6]]N background by the [[International Knockout Mouse Consortium]]. The mouse strains are characterized in a broad based phenotyping pipeline that is focused on revealing insights into human disease by measuring embryonic, neuromuscular, sensory, cardiovascular, metabolic, respiratory, haematological, and neurological parameters.<ref name="pmid22566555"/><ref name="IMPReSS"/>
The protocols used to assess these phenotypes have been standardized across the IMPC partners and are available at IMPReSS.<ref name="IMPReSS">{{cite web|url=http://www.mousephenotype.org/impress |title=IMPReSS International Mouse Phenotyping Resource of Standardised Screens |publisher=Mousephenotype.org |date= |accessdate=2013-08-01}}</ref>

Mouse strains generated by the IMPC partners are deposited at the KOMP repository <ref name="KOMP">{{cite web|url=http://www.komp.org |title=Knockout Mouse Project (KOMP) Repository |publisher=KOMP |date=2010-08-01 |accessdate=2013-08-01}}</ref> and the European Mutant Mouse Archive.<ref name="EMMA">{{cite web|url=http://www.emmanet.org |title=EMMA - the European Mouse Mutant Archive |publisher=Emmanet.org |date= |accessdate=2013-08-01}}</ref> In many cases, strains carrying one of two types of alleles will be archived - a null allele used in the primary IMPC phenotyping pipeline and a conditional ready allele that allows tissue restricted knockouts via the [[Cre-Lox Recombination]] and [[FLP-FRT recombination]] systems.

The phenotypic data is recorded in a freely accessible, fully searchable [[online database]],<ref name="Mouse Phenotype">{{cite web|url=http://www.mousephenotype.org |title=IMPC &#124; International Mouse Phenotyping Consortium |publisher=Mousephenotype.org |date= |accessdate=2013-08-01}}</ref> generating what has been described as a "comprehensive encyclopaedia of mammalian gene function."<ref name="pmid22566555"/>

==IMPReSS==
{{infobox biodatabase
|title = IMPReSS
|logo =
|description = Standardized protocols for phenotyping mutant mouse strains.
|scope =
|organism =[[Mouse]]
|center = 
|laboratory = 
|author =
|citation = Brown and Moore, 2012<ref name="pmid22566555"/>
|released = 2012
|standard =
|format =
|url =http://www.mousephenotype.org/impress
|download =
|webservice =
|sql =
|sparql =
|webapp =
|standalone =
|license = 
|versioning =
|frequency =
|curation =
|bookmark =
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The International Mouse Phenotyping Resource of Standardised Screens (IMPReSS) coordinates and presents standardized [[Protocol (natural sciences)|protocols]] that are used by mouse research clinics to assess biological characteristics of mutant mouse strains. IMPReSS was launched in 2011 to help the IMPC achieve its goal of characterizing a knockout mouse strain for every gene and will continue to be actively developed for the ten year life-time of the project.<ref name="pmid22566555" />  IMPReSS, the successor of EMPReSS, is built on the concept of a "phenotype pipeline": a sequence of individual procedures performed on a mouse at a specified age and organized to minimize interference from one procedure to the next.<ref name="empress">{{cite web|url=http://empress.har.mrc.ac.uk |title=Empress |publisher=Empress.har.mrc.ac.uk |date= |accessdate=2013-08-01}}</ref><ref>{{Cite journal 
| last1 = Brown | first1 = S. D. M. 
| last2 = Chambon | first2 = P. 
| last3 = De Angelis | first3 = M. H. 
| last4 = Eumorphia | first4 = C. 
| title = EMPReSS: Standardized phenotype screens for functional annotation of the mouse genome 
| doi = 10.1038/ng1105-1155 
| journal = Nature Genetics 
| volume = 37 
| issue = 11 
| pages = 1155 
| year = 2005 
| pmid = 16254554 
| pmc = 
}}</ref><ref>{{Cite journal 
| last1 = Mallon | first1 = A. -M. 
| last2 = Blake | first2 = A. 
| last3 = Hancock | first3 = J. M. 
| doi = 10.1093/nar/gkm728 
| title = EuroPhenome and EMPReSS: Online mouse phenotyping resource 
| journal = Nucleic Acids Research 
| volume = 36 
| issue = Database issue 
| pages = D715–D718 
| year = 2007 
| pmid = 17905814 
| pmc =2238991 
}}</ref> Each procedure is broken down into a set of multiple parameters that capture both data and metadata. Data parameters are associated with  biomedical [[Ontology (information science)|ontology]] terms in order to facilitate data sharing and to aid in the identification of phenotypic mouse-models of human diseases.<ref>{{Cite journal 
| last1 = Chen | first1 = C. K. 
| last2 = Mungall | first2 = C. J. 
| last3 = Gkoutos | first3 = G. V. 
| last4 = Doelken | first4 = S. C. 
| last5 = Köhler | first5 = S. 
| last6 = Ruef | first6 = B. J. 
| last7 = Smith | first7 = C. 
| last8 = Westerfield | first8 = M. 
| last9 = Robinson | first9 = P. N. 
| last10 = Lewis 
| doi = 10.1002/humu.22051 | first10 = S. E. 
| last11 = Schofield | first11 = P. N. 
| last12 = Smedley | first12 = D. 
| title = MouseFinder: Candidate disease genes from mouse phenotype data 
| journal = Human Mutation 
| volume = 33 
| issue = 5 
| pages = 858–866 
| year = 2012 
| pmid = 22331800 
| pmc =3327758 
}}</ref>

== EMPReSS ==
The European Mouse Phenotyping Resource for Standardized Screens (EMPReSS),<ref name="empress" /> the predecessor for IMPReSS, developed more than a 150 standardized protocols for the characterization of mutant mouse strains across European research institutes as part of the EUMODIC<ref>{{cite web|url=http://www.eumodic.org |title=Eumodic |publisher=Eumodic |date= |accessdate=2013-08-01}}</ref> and [[EUMORPHIA]]<ref>{{cite web|url=http://www.eumorphia.org |accessdate=July 8, 2013 |deadurl=yes |archiveurl=https://web.archive.org/20120703052356/http://www.eumorphia.org:80/ |archivedate=July 3, 2012 }}</ref> projects. EMPReSS was actively developed from 2002 until it was superseded by IMPReSS in 2011. Phenotype data collected from EMPReSS protocols is available at [[Europhenome]].

== Embryonic-lethal knockout lines ==
Around 30% of all targeted gene knockouts in mice result in embryonic or [[Prenatal development#perinatal|perinatal]] death.<ref name="pmid23519032">{{cite journal |author1=Adams, D |author2=Baldock, R |author3=Bhattacharya, S |author4=Copp, AJ |author5=Dickinson, M |author6=Greene, NDE |author7=Henkelman, M |author8=Justice, M |author9=Mohun, T |author10=Murray, SA |author11=Pauws, E |author12=Raess, M |author13=Rossant, J |author14=Weaver, T |author15=West, D |title= Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening |journal= Disease models and mechanisms |volume=6 |issue=3 |pages=571–579 |date=May 2013 |pmid=23519032 |doi=10.1242/dmm.011833 |url= |pmc=3634642}}</ref> The effects of these mutations cannot therefore be studied in live adult mice, except as [[Zygosity#Heterozygous|heterozygote]] mutants. However, systematic studies of embryonic-lethal knockouts are important to understand how these genes influence embryo development and survival.

In 2013 the IMPC published the Bloomsbury report on mouse embryo phenotyping,<ref name="pmid23519032" /> outlining a standard pipeline for the screening of embryonic-lethal knockouts in homozygote mutants. In the UK, their recommendations form the basis of the DMDD (Deciphering the Mechanisms of Developmental Disorders) project.<ref name="pmid23519034">{{cite journal |author1=Mohun, T |author2=Adams, DJ |author3=Baldock, R |author4=Bhattacharya, S |author5=Copp, AJ |author6=Hemberger, M |author7=Houart, C |author8=Hurles, ME |author9=Robertson, E |author10=Smith, JC |author11=Weaver, T |author12=Weninger, W |title= Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice|journal= Disease Models and Mechanisms |volume=6 |issue=3 |pages=562–566 |date=May 2013 |pmid=23519034 |doi=10.1242/dmm.011957 |url= |pmc=3634640}}</ref>

==See also==
*[[Sanger Mouse Genetics Project]]

== References ==
{{reflist}}

[[Category:Biological databases]]
[[Category:Genetically modified organisms]]
[[Category:Laboratory mouse strains| ]]