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|+ Spns2 knockout mouse phenotype |
Characteristic | Phenotype |
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Homozygote viability | bgcolor="#488ED3"|Normal |
Homozygous Fertility | bgcolor="#488ED3"|Normal |
Body weight | bgcolor="#488ED3"|Normal |
Anxiety | bgcolor="#488ED3"|Normal |
Neurological assessment | bgcolor="#C40000"|Abnormal[{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBNZ/neurological-assessment/ |title=Neurological assessment data for Spns2 |publisher=Wellcome Trust Sanger Institute}}] |
Grip strength | bgcolor="#488ED3"|Normal |
Hot plate | bgcolor="#488ED3"|Normal |
Dysmorphology | bgcolor="#C40000"|Abnormal[{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBNZ/dysmorphology/ |title=Dysmorphology data for Spns2 |publisher=Wellcome Trust Sanger Institute}}] |
Indirect calorimetry | bgcolor="#488ED3"|Normal |
Glucose tolerance test | bgcolor="#488ED3"|Normal |
Auditory brainstem response | bgcolor="#C40000"|Abnormal |
DEXA | bgcolor="#488ED3"|Normal |
Radiography | bgcolor="#488ED3"|Normal |
Body temperature | bgcolor="#488ED3"|Normal |
Eye morphology | bgcolor="#C40000"|Abnormal[{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBNZ/eye-morphology/ |title=Eye morphology data for Spns2 |publisher=Wellcome Trust Sanger Institute}}] |
Clinical chemistry | bgcolor="#C40000"|Abnormal[{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBNZ/plasma-chemistry/ |title=Clinical chemistry data for Spns2 |publisher=Wellcome Trust Sanger Institute}}] |
Plasma immunoglobulins | bgcolor="#488ED3"|Normal |
Haematology | bgcolor="#C40000"|Abnormal[{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBNZ/haematology-cbc/ |title=Haematology data for Spns2 |publisher=Wellcome Trust Sanger Institute}}] |
Peripheral blood lymphocytes | bgcolor="#C40000"|Abnormal[{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBNZ/peripheral-blood-lymphocytes/ |title=Peripheral blood lymphocytes data for Spns2 |publisher=Wellcome Trust Sanger Institute}}] |
Micronucleus test | bgcolor="#488ED3"|Normal |
Heart weight | bgcolor="#488ED3"|Normal |
Tail epidermis wholemount | bgcolor="#488ED3"|Normal |
Skin Histopathology | bgcolor="#488ED3"|Normal |
Brain histopathology | bgcolor="#488ED3"|Normal |
Eye Histopathology | bgcolor="#C40000"|Abnormal |
MicroCT & Quantitative Faxitron | bgcolor="#C40000"|Abnormal |
Salmonella infection | bgcolor="#488ED3"|Normal[{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBNZ/salmonella-challenge/ |title=Salmonella infection data for Spns2 |publisher=Wellcome Trust Sanger Institute}}] |
Citrobacter infection | bgcolor="#488ED3"|Normal[{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBNZ/citrobacter-challenge/ |title=Citrobacter infection data for Spns2 |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 SPNS2 function. A conditional knockout mouse line, called Spns2tm1a(KOMP)Wtsi[{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Spns2 |title=International Knockout Mouse Consortium}}][{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4460276 |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}}]
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 homozygous mutant mice of both sex and nine significant abnormalities were observed, including an absence of pinna reflex, abnormal eye pigmentation and morphology including cataracts, decreased leukocyte cell number, abnormal brainstem auditory evoked potential, increased bone mineral content and a range of atypical peripheral blood lymphocyte parameters. Males additionally displayed decreased circulating glucose and increased circulating bilirubin levels.