CCDC57

Coiled-coil domain-containing protein 57 is a protein that in humans is encoded by the CCDC57 gene.[5]

CCDC57
Identifiers
AliasesCCDC57, coiled-coil domain containing 57
External IDsMGI: 1918526 HomoloGene: 52351 GeneCards: CCDC57
Orthologs
SpeciesHumanMouse
Entrez

284001

71276

Ensembl

ENSG00000176155

ENSMUSG00000048445

UniProt

Q2TAC2

Q6PHN1

RefSeq (mRNA)

NM_027745

RefSeq (protein)

NP_001303250
NP_932348
NP_001354757

NP_082021

Location (UCSC)Chr 17: 82.1 – 82.21 MbChr 11: 120.72 – 120.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Model organisms

Model organisms have been used in the study of CCDC57 function. A conditional knockout mouse line, called Ccdc57tm1a(EUCOMM)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 six tests were carried out on mutant mice and two significant abnormalities were observed.[8] The animals displayed hydrocephaly and had abnormal hypodermis fat layer morphology.[8]

References

  1. GRCh38: Ensembl release 89: ENSG00000176155 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000048445 - 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. "Entrez Gene: coiled-coil domain containing 57". Retrieved 2011-08-30.
  6. "Salmonella infection data for Ccdc57". Wellcome Trust Sanger Institute.
  7. "Citrobacter infection data for Ccdc57". Wellcome Trust Sanger Institute.
  8. 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.
  9. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. "International Knockout Mouse Consortium". Archived from the original on 2012-03-20. Retrieved 2012-02-07.
  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 (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  14. 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.
  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. PMC 3218837. PMID 21722353.

Further reading


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