DNASE1L2

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

DNASE1L2
Identifiers
AliasesDNASE1L2, DNAS1L2, deoxyribonuclease I-like 2, deoxyribonuclease 1 like 2
External IDsOMIM: 602622 MGI: 1913955 HomoloGene: 74391 GeneCards: DNASE1L2
Orthologs
SpeciesHumanMouse
Entrez

1775

66705

Ensembl

ENSG00000167968

ENSMUSG00000024136

UniProt

Q92874

Q9D1G0

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


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. GRCh38: Ensembl release 89: ENSG00000167968 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000024136 - Ensembl, 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. 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. S2CID 85911512.
  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. S2CID 18872015.
  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.

Further reading

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