User:Rockpocket/MGP/NSUN2

Model organisms

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|+ Nsun2 knockout mouse phenotype

CharacteristicPhenotype
Homozygote viabilitybgcolor="#C40000"|Abnormal
Recessive lethal studybgcolor="#488ED3"|Normal
Homozygous Fertilitybgcolor="#C40000"|Abnormal
Body weightbgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKW/weight-curves/ |title=Body weight data for Nsun2 |publisher=Wellcome Trust Sanger Institute}}
Anxietybgcolor="#488ED3"|Normal
Neurological assessmentbgcolor="#488ED3"|Normal
Grip strengthbgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKW/grip-strength/ |title=Grip strength data for Nsun2 |publisher=Wellcome Trust Sanger Institute}}
Hot platebgcolor="#488ED3"|Normal
Dysmorphologybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKW/dysmorphology/ |title=Dysmorphology data for Nsun2 |publisher=Wellcome Trust Sanger Institute}}
Indirect calorimetrybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKW/indirect-calorimetry/ |title=Indirect calorimetry data for Nsun2 |publisher=Wellcome Trust Sanger Institute}}
Glucose tolerance testbgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKW/glucose-tolerance-ip/ |title=Glucose tolerance test data for Nsun2 |publisher=Wellcome Trust Sanger Institute}}
Auditory brainstem responsebgcolor="#488ED3"|Normal
DEXAbgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKW/body-composition-dexa/ |title=DEXA data for Nsun2 |publisher=Wellcome Trust Sanger Institute}}
Radiographybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKW/x-ray-imaging/ |title=Radiography data for Nsun2 |publisher=Wellcome Trust Sanger Institute}}
Body temperaturebgcolor="#488ED3"|Normal
Eye morphologybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKW/eye-morphology/ |title=Eye morphology data for Nsun2 |publisher=Wellcome Trust Sanger Institute}}
Clinical chemistrybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKW/plasma-chemistry/ |title=Clinical chemistry data for Nsun2 |publisher=Wellcome Trust Sanger Institute}}
Plasma immunoglobulinsbgcolor="#488ED3"|Normal
Haematologybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKW/haematology-cbc/ |title=Haematology data for Nsun2 |publisher=Wellcome Trust Sanger Institute}}
Peripheral blood lymphocytesbgcolor="#488ED3"|Normal
Micronucleus testbgcolor="#488ED3"|Normal
Heart weightbgcolor="#488ED3"|Normal
Tail epidermis wholemountbgcolor="#488ED3"|Normal
Skin Histopathologybgcolor="#C40000"|Abnormal
Brain histopathologybgcolor="#488ED3"|Normal
MicroCT & Quantitative Faxitronbgcolor="#C40000"|Abnormal
Salmonella infectionbgcolor="#488ED3"|Normal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKW/salmonella-challenge/ |title=Salmonella infection data for Nsun2 |publisher=Wellcome Trust Sanger Institute}}
Citrobacter infectionbgcolor="#488ED3"|Normal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBKW/citrobacter-challenge/ |title=Citrobacter infection data for Nsun2 |publisher=Wellcome Trust Sanger Institute}}
colspan=2; style="text-align: center;" | All tests and analysis from{{cite web |url=http://onlinelibrary.wiley.com/doi/10.1111/j.1755-3768.2010.4142.x/abstract |title=The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice |author=Gerdin AK |year=2010 |location=Acta Opthalmologica 88: 925-7.doi:10.1111/j.1755-3768.2010.4142.x |publisher=Wiley}}[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.

Model organisms have been used in the study of NSUN2 function. A conditional knockout mouse line, called Nsun2tm1a(EUCOMM)Wtsi{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Nsun2 |title=International Knockout Mouse Consortium}}{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4432654 |title=Mouse Genome Informatics}} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.{{Cite journal| last1 = Skarnes |first1 =W. C.| doi = 10.1038/nature10163 | last2 = Rosen | first2 = B.| last3 = West | first3 = A. P.| last4 = Koutsourakis | first4 = M.| last5 = Bushell | first5 = W.| last6 = Iyer | first6 = V.| last7 = Mujica | first7 = A. O.| last8 = Thomas | first8 = M.| last9 = Harrow | first9 = J.| last10 = Cox | first10 = T.| last11 = Jackson | first11 = D.| last12 = Severin | first12 = J.| last13 = Biggs | first13 = P.| last14 = Fu | first14 = J.| last15 = Nefedov | first15 = M.| last16 = De Jong | first16 = P. J.| last17 = Stewart | first17 = A. F.| last18 = Bradley | first18 = A. | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–342 | year = 2011 | pmid = 21677750 | pmc =3572410 }}{{cite web |url=http://www.nature.com/news/2011/110615/full/474262a.html |title=Mouse library set to be knockout |author=Dolgin E |year=June 2011 |location=Nature 474: 262-263. doi:10.1038/474262a}}{{cite book |title=A mouse for all reasons |author=Collins FS, Rossant J, Wurst W |year=January 2007 |location=Cell 128(1): 9-13. doi:10.1016/j.cell.2006.12.018 PMID 17218247}}

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.{{cite journal| author=van der Weyden L, White JK, Adams DJ, Logan DW| title=The mouse genetics toolkit: revealing function and mechanism. | journal=Genome Biol | year= 2011 | volume= 12 | issue= 6 | pages= 224 | pmid=21722353 | doi=10.1186/gb-2011-12-6-224 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21722353 }} Twenty eight tests were carried out on mutant mice and fourteen significant abnormalities were observed. Homozygous mutants were subviable and had decreased body weights, length of long bones and decreased circulating glucose levels, numerous abnormal body composition, X-ray imaging, eye morphology and haematology parameters; males also had a decreased grip strength, a short upturned snout, and abnormal indirect calorimetry and plasma chemistry parameters. Males (but not females) were also infertile.

In addition, heterozygote mutants displayed premature hair follicle exogen.

References

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