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Model organisms

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Model organisms have been used in the study of SLC25A21 function. A conditional knockout mouse line, called Slc25a21tm1a(KOMP)Wtsi[10][11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty one tests were carried out on homozygous mutant mice and ten significant abnormalities were observed, including sub-viability at weaning, decreased body weight, absent pinna reflex, abnormal snout, skull, spine and tooth morphology, atypical indirect calorimetry, body composition and plasma chemistry data, increased mean platelet volume and moderate elevations in auditory thresholds. [8]

References

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  1. ^ "Body weight data for Slc25a21". Wellcome Trust Sanger Institute.
  2. ^ "Dysmorphology data for Slc25a21". Wellcome Trust Sanger Institute.
  3. ^ "Indirect calorimetry data for Slc25a21". Wellcome Trust Sanger Institute.
  4. ^ "DEXA data for Slc25a21". Wellcome Trust Sanger Institute.
  5. ^ "Radiography data for Slc25a21". Wellcome Trust Sanger Institute.
  6. ^ "Clinical chemistry data for Slc25a21". Wellcome Trust Sanger Institute.
  7. ^ "Haematology data for Slc25a21". Wellcome Trust Sanger Institute.
  8. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Opthalmologica 88: 925-7.doi:10.1111/j.1755-3768.2010.4142.x: Wiley.{{cite web}}: CS1 maint: location (link)
  9. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ^ "International Knockout Mouse Consortium".
  11. ^ "Mouse Genome Informatics".
  12. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  13. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474: 262-263. doi:10.1038/474262a.{{cite web}}: CS1 maint: location (link) CS1 maint: year (link)
  14. ^ Collins FS, Rossant J, Wurst W (January 2007). A mouse for all reasons. Cell 128(1): 9-13. doi:10.1016/j.cell.2006.12.018 PMID 17218247.{{cite book}}: CS1 maint: location (link) CS1 maint: location missing publisher (link) CS1 maint: multiple names: authors list (link) CS1 maint: year (link)
  15. ^ 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. PMID 21722353.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)