DNASE1L2

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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Deoxyribonuclease-1-like 2 is an enzyme that in humans is encoded by the DNASE1L2 gene.[1][2][3]


Model organisms

Model organisms have been used in the study of DNASE1L2 function. A conditional knockout mouse line, called Dnase1l2tm1(KOMP)Wtsi[16][17] 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.[18][19][20]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[14][21] Twenty three tests were carried out on mutant mice and eight significant abnormalities were observed.[14] Homozygous mutant animals had a decreased body weight, grip strength and bone mineral content; a kinked tail, abnormal indirect calorimetry and femur/tibia morphology. Females also had an increased blood urea nitrogen level while males had a decreased leukocyte cell number.[14]

References

  1. ↑ Rodriguez AM, Rodin D, Nomura H, Morton CC, Weremowicz S, Schneider MC (Sep 1997). "Identification, localization, and expression of two novel human genes similar to deoxyribonuclease I". Genomics. 42 (3): 507–13. doi:10.1006/geno.1997.4748. PMID 9205125.
  2. ↑ Germino GG, Weinstat-Saslow D, Himmelbauer H, Gillespie GA, Somlo S, Wirth B, Barton N, Harris KL, Frischauf AM, Reeders ST (Jun 1992). "The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region". Genomics. 13 (1): 144–51. doi:10.1016/0888-7543(92)90214-D. PMID 1577479.
  3. ↑ "Entrez Gene: DNASE1L2 deoxyribonuclease I-like 2".
  4. ↑ "Body weight data for Dnase1l2". Wellcome Trust Sanger Institute.
  5. ↑ "Grip strength data for Dnase1l2". Wellcome Trust Sanger Institute.
  6. ↑ "Dysmorphology data for Dnase1l2". Wellcome Trust Sanger Institute.
  7. ↑ "Indirect calorimetry data for Dnase1l2". Wellcome Trust Sanger Institute.
  8. ↑ "DEXA data for Dnase1l2". Wellcome Trust Sanger Institute.
  9. ↑ "Radiography data for Dnase1l2". Wellcome Trust Sanger Institute.
  10. ↑ "Clinical chemistry data for Dnase1l2". Wellcome Trust Sanger Institute.
  11. ↑ "Haematology data for Dnase1l2". Wellcome Trust Sanger Institute.
  12. ↑ "Salmonella infection data for Dnase1l2". Wellcome Trust Sanger Institute.
  13. ↑ "Citrobacter infection data for Dnase1l2". Wellcome Trust Sanger Institute.
  14. ↑ 14.0 14.1 14.2 14.3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  15. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  16. ↑ "International Knockout Mouse Consortium".
  17. ↑ "Mouse Genome Informatics".
  18. ↑ 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.
  19. ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  20. ↑ 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.
  21. ↑ 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.

Further reading