NIPA1

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Template:PBB Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene.[1][2] Template:PBB Summary

Model organisms

Model organisms have been used in the study of NIPA1 function. A conditional knockout mouse line, called Nipa1tm1a(KOMP)Wtsi[7][8] 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.[9][10][11]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty four tests were carried out on mutant mice but no significant abnormalities were observed.[5]

References

  1. ^ Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK (2003). "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)". Am J Hum Genet. 73 (4): 967–71. doi:10.1086/378817. PMC 1180617. PMID 14508710. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  2. ^ "Entrez Gene: NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1".
  3. ^ "Salmonella infection data for Nipa1". Wellcome Trust Sanger Institute.
  4. ^ "Citrobacter infection data for Nipa1". Wellcome Trust Sanger Institute.
  5. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
  6. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  7. ^ "International Knockout Mouse Consortium".
  8. ^ "Mouse Genome Informatics".
  9. ^ Attention: This template ({{cite pmid}}) is deprecated. To cite the publication identified by PMID 21677750, please use {{cite journal}} with |pmid=21677750 instead.
  10. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. {{cite journal}}: Unknown parameter |month= ignored (help)
  11. ^ Collins FS, Rossant J, Wurst W (2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  12. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)

Further reading

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