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User:Rockpocket/MGP/ATP2B2

==Model organisms==

Model organisms have been used in the study of ATP2B2 function. A conditional knockout mouse line, called Atp2b2Obl{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Atp2b2 |title=International Knockout Mouse Consortium}} 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 — at the Wellcome Trust Sanger Institute.{{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 }}

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|+ Atp2b2 knockout mouse phenotype

CharacteristicPhenotype
Homozygote viabilitybgcolor="#488ED3"|Normal
Fertilitybgcolor="#488ED3"|Normal
General Observationsbgcolor="#C40000"|Abnormal
Body weightbgcolor="#488ED3"|Normal
Anxietybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAME/open-field/ |title=Anxiety data for Atp2b2 |publisher=Wellcome Trust Sanger Institute}}
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="#C40000"|Abnormal
DEXAbgcolor="#488ED3"|Normal
Radiographybgcolor="#488ED3"|Normal
Body temperaturebgcolor="#488ED3"|Normal
Eye morphologybgcolor="#488ED3"|Normal
Clinical chemistrybgcolor="#488ED3"|Normal
Plasma immunoglobulinsbgcolor="#488ED3"|Normal
Haematologybgcolor="#488ED3"|Normal
Peripheral blood lymphocytesbgcolor="#488ED3"|Normal
Micronucleus testbgcolor="#488ED3"|Normal
Heart weightbgcolor="#488ED3"|Normal
Brain histopathologybgcolor="#488ED3"|Normal
Salmonella infectionbgcolor="#488ED3"|Normal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAME/salmonella-challenge/ |title=Salmonella infection data for Atp2b2 |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}}

Twenty four tests were carried out on mutant mice and three significant abnormalities were observed. Heterozygote male animals displayed increased vertical activity in an open field test, while the animals were generally observed to have abnormal motor coordination and balance. Atp2b2Obl heterozygote mice also showed a severe hearing impairment at 13 weeks, as measured by an auditory brainstem response.

References

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