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User:Rockpocket/MGP/ASXL1

Model organisms

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|+ Asxl1 knockout mouse phenotype

CharacteristicPhenotype
Homozygote viabilitybgcolor="#C40000"|Abnormal
Recessive lethal studybgcolor="#C40000"|Abnormal
Body weightbgcolor="#488ED3"|Normal
Anxietybgcolor="#488ED3"|Normal
Neurological assessmentbgcolor="#488ED3"|Normal
Grip strengthbgcolor="#488ED3"|Normal
Hot platebgcolor="#488ED3"|Normal
Dysmorphologybgcolor="#488ED3"|Normal
Indirect calorimetrybgcolor="#488ED3"|Normal
Glucose tolerance testbgcolor="#488ED3"|Normal
Auditory brainstem responsebgcolor="#488ED3"|Normal
DEXAbgcolor="#488ED3"|Normal
Radiographybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBSP/x-ray-imaging/ |title=Radiography data for Asxl1 |publisher=Wellcome Trust Sanger Institute}}
Body temperaturebgcolor="#488ED3"|Normal
Eye morphologybgcolor="#488ED3"|Normal
Clinical chemistrybgcolor="#488ED3"|Normal
Haematologybgcolor="#488ED3"|Normal
Peripheral blood lymphocytesbgcolor="#488ED3"|Normal
Micronucleus testbgcolor="#488ED3"|Normal
Heart weightbgcolor="#488ED3"|Normal
Skin Histopathologybgcolor="#488ED3"|Normal
Brain histopathologybgcolor="#488ED3"|Normal
MicroCT & Quantitative Faxitronbgcolor="#C40000"|Abnormal
Salmonella infectionbgcolor="#488ED3"|Normal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBSP/salmonella-challenge/ |title=Salmonella infection data for Asxl1 |publisher=Wellcome Trust Sanger Institute}}
Citrobacter infectionbgcolor="#488ED3"|Normal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBSP/citrobacter-challenge/ |title=Citrobacter infection data for Asxl1 |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 ASXL1 function. A conditional knockout mouse line, called Asxl1tm1a(EUCOMM)Wtsi{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Asxl1 |title=International Knockout Mouse Consortium}}{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4431878 |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 five tests were carried out on mutant mice and four significant abnormalities were observed. Few homozygous mutant embryos were identified during gestation and those that were alive had craniofacial and eye defects, none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; decreased vertebrae number and increased bone strength was observed in these animals.

References

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