CCDC137

Last updated
CCDC137
Identifiers
Aliases CCDC137 , RaRF, Coiled-coil domain, Coiled-coil domain 137, coiled-coil domain containing 137
External IDs OMIM: 614271 MGI: 1914541 HomoloGene: 34992 GeneCards: CCDC137
Orthologs
SpeciesHumanMouse
Entrez

339230

67291

Ensembl

ENSG00000185298

ENSMUSG00000049957

UniProt

Q6PK04

Q8R0K4

RefSeq (mRNA)

NM_199287

NM_152807

RefSeq (protein)

NP_954981

NP_690020

Location (UCSC) Chr 17: 81.67 – 81.67 Mb Chr 11: 120.35 – 120.36 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Coiled-coil domain containing 137 is a protein that in humans is encoded by the CCDC137 gene. [5]

Contents

Model organisms

Model organisms have been used in the study of CCDC137 function. A conditional knockout mouse line, called Ccdc137tm1a(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 — at the Wellcome Trust Sanger Institute. [12] [13] [14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [8] [15] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed. [8] No homozygous mutant embryos were recorded during gestation and, in a separate study, no homozygous animals were observed at weaning. The remaining tests were carried out on adult heterozygous mutant animals, but no further abnormalities were seen. [8]

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000185298 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000049957 - 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 137" . Retrieved 2011-09-20.
  6. ↑ "Salmonella infection data for Ccdc137". Wellcome Trust Sanger Institute.
  7. ↑ "Citrobacter infection data for Ccdc137". Wellcome Trust Sanger Institute.
  8. 1 2 3 4 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). 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 2012-06-02. Retrieved 2011-12-24.
  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 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
  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. 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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