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User:Rockpocket/MGP/PRPSAP2

Phosphoribosyl pyrophosphate synthetase-associated protein 2 is an enzyme that in humans is encoded by the PRPSAP2 gene.{{cite web | title = Entrez Gene: PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2| url = http://www.ncbi.nlm.nih.gov/gene/5636| accessdate = }}{{cite journal |author=Katashima R, Iwahana H, Fujimura M, Yamaoka T, Itakura M |title=Assignment of the human phosphoribosylpyrophosphate synthetase-associated protein 41 gene (PRPSAP2) to 17p11.2-p12 |journal=Genomics |volume=54 |issue=1 |pages=180–1 |year=1998 |date=November 1998 |pmid=9806849 |doi=10.1006/geno.1998.5432 |url=}}

==Model organisms==

Model organisms have been used in the study of PRPSAP2 function. A conditional knockout mouse line, called Prpsap2tm1a(EUCOMM)Wtsi{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Prpsap2 |title=International Knockout Mouse Consortium}}{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4432556 |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 — 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 journal |url=http://www.nature.com/news/2011/110615/full/474262a.html |title=Mouse library set to be knockout |author=Dolgin E |journal=Nature |date=June 2011 |volume=474 |issue=7351 |pages=262–263 |location=Nature 474: 262-263. doi:10.1038/474262a|doi=10.1038/474262a |pmid=21677718 }}{{cite journal |title=A mouse for all reasons |author=Collins FS, Rossant J, Wurst W |journal=Cell |date=January 2007 |volume=128 |issue=1 |pages=9–13 |location=Cell 128(1): 9-13. doi:10.1016/j.cell.2006.12.018 PMID 17218247|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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|+ Prpsap2 knockout mouse phenotype

CharacteristicPhenotype
Homozygote viabilitybgcolor="#488ED3"|Normal
Fertilitybgcolor="#488ED3"|Normal
Body weightbgcolor="#488ED3"|Normal
Anxietybgcolor="#C40000"|Abnormal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MABP/open-field/ |title=Anxiety data for Prpsap2 |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="#488ED3"|Normal
DEXAbgcolor="#488ED3"|Normal
Radiographybgcolor="#488ED3"|Normal
Body temperaturebgcolor="#488ED3"|Normal
Eye morphologybgcolor="#488ED3"|Normal
Clinical chemistrybgcolor="#488ED3"|Normal
Plasma immunoglobulinsbgcolor="#C40000"|Abnormal
Haematologybgcolor="#488ED3"|Normal
Peripheral blood lymphocytesbgcolor="#488ED3"|Normal
Micronucleus testbgcolor="#488ED3"|Normal
Heart weightbgcolor="#488ED3"|Normal
Tail epidermis wholemountbgcolor="#488ED3"|Normal
Brain histopathologybgcolor="#488ED3"|Normal
Salmonella infectionbgcolor="#488ED3"|Normal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MABP/salmonella-challenge/ |title=Salmonella infection data for Prpsap2 |publisher=Wellcome Trust Sanger Institute}}
Citrobacter infectionbgcolor="#488ED3"|Normal{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MABP/citrobacter-challenge/ |title=Citrobacter infection data for Prpsap2 |publisher=Wellcome Trust Sanger Institute}}
colspan=2; style="text-align: center;" | All tests and analysis from{{cite journal |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 |journal=Acta Ophthalmologica |year=2010 |volume=88 |location=Acta Opthalmologica 88: 925-7.doi:10.1111/j.1755-3768.2010.4142.x |publisher=Wiley|doi=10.1111/j.1755-3768.2010.4142.x }}

Twenty five tests were carried out and two phenotypes were reported. Homozygous mutant males displayed more rearing in a open field test, and mutants of both sex had decreased IgG1 levels.

References

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