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User:Rockpocket/MGP/SMS

Model organisms

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|+ Sms knockout mouse phenotype

CharacteristicPhenotype
Homozygote viabilitybgcolor="#488ED3"|Normal
Fertilitybgcolor="#C40000"|Abnormal
Body weightbgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBCD/weight-curves/ |title=Body weight data for Sms |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/MBCD/grip-strength/ |title=Grip strength data for Sms |publisher=Wellcome Trust Sanger Institute}}
Hot platebgcolor="#488ED3"|Normal
Dysmorphologybgcolor="#488ED3"|Normal
Indirect calorimetrybgcolor="#488ED3"|Normal
Glucose tolerance testbgcolor="#488ED3"|Normal
Auditory brainstem responsebgcolor="#488ED3"|Normal
DEXAbgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBCD/body-composition-dexa/ |title=DEXA data for Sms |publisher=Wellcome Trust Sanger Institute}}
Radiographybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBCD/x-ray-imaging/ |title=Radiography data for Sms |publisher=Wellcome Trust Sanger Institute}}
Body temperaturebgcolor="#488ED3"|Normal
Eye morphologybgcolor="#488ED3"|Normal
Clinical chemistrybgcolor="#488ED3"|Normal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBCD/plasma-chemistry/ |title=Clinical chemistry data for Sms |publisher=Wellcome Trust Sanger Institute}}
Haematologybgcolor="#488ED3"|Normal
Peripheral blood lymphocytesbgcolor="#C40000"|Abnormal
Micronucleus testbgcolor="#488ED3"|Normal
Heart weightbgcolor="#488ED3"|Normal
Skin Histopathologybgcolor="#488ED3"|Normal
Eye Histopathologybgcolor="#488ED3"|Normal
Citrobacter infectionbgcolor="#488ED3"|Normal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBCD/citrobacter-challenge/ |title=Citrobacter infection data for Sms |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 SMS function. A conditional knockout mouse line, called Smstm1a(EUCOMM)Wtsi{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Sms |title=International Knockout Mouse Consortium}}{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4431547 |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 three tests were carried out on mutant mice and six significant abnormalities were observed. Hemizygous males were infertile and thus it was not possible to produce homozygous mutant female mice. The remaining tests were therefore carried out on heterozygous mutant females and hemizygous males. Both displayed decreased grip strength while the males also had decreased body weight, length, bone mineral content and atypical peripheral blood lymphocyte counts.

References

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