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DNASE1L2

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DNASE1L2
Identifiers
AliasesDNASE1L2, DNAS1L2, deoxyribonuclease I-like 2, deoxyribonuclease 1 like 2
External IDsOMIM: 602622; MGI: 1913955; HomoloGene: 74391; GeneCards: DNASE1L2; OMA:DNASE1L2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001301680
NM_001374

NM_025718

RefSeq (protein)

NP_001288609
NP_001365

NP_079994

Location (UCSC)Chr 16: 2.24 – 2.24 MbChr 17: 24.66 – 24.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Deoxyribonuclease-1-like 2 is an enzyme that in humans is encoded by the DNASE1L2 gene.[5][6][7]


Model organisms

Model organisms have been used in the study of DNASE1L2 function. A conditional knockout mouse line, called Dnase1l2tm1(KOMP)Wtsi[20][21] 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.[22][23][24]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[18][25] Twenty three tests were carried out on mutant mice and eight significant abnormalities were observed.[18] 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.[18]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000167968Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024136Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ "Entrez Gene: DNASE1L2 deoxyribonuclease I-like 2".
  8. ^ "Body weight data for Dnase1l2". Wellcome Trust Sanger Institute.
  9. ^ "Grip strength data for Dnase1l2". Wellcome Trust Sanger Institute.
  10. ^ "Dysmorphology data for Dnase1l2". Wellcome Trust Sanger Institute.
  11. ^ "Indirect calorimetry data for Dnase1l2". Wellcome Trust Sanger Institute.
  12. ^ "DEXA data for Dnase1l2". Wellcome Trust Sanger Institute.
  13. ^ "Radiography data for Dnase1l2". Wellcome Trust Sanger Institute.
  14. ^ "Clinical chemistry data for Dnase1l2". Wellcome Trust Sanger Institute.
  15. ^ "Haematology data for Dnase1l2". Wellcome Trust Sanger Institute.
  16. ^ "Salmonella infection data for Dnase1l2". Wellcome Trust Sanger Institute.
  17. ^ "Citrobacter infection data for Dnase1l2". Wellcome Trust Sanger Institute.
  18. ^ a b c d 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.
  19. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  20. ^ "International Knockout Mouse Consortium". Archived from the original on 2012-04-03. Retrieved 2012-02-12.
  21. ^ "Mouse Genome Informatics".
  22. ^ 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.
  23. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  24. ^ 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.
  25. ^ 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: unflagged free DOI (link)

Further reading