BBX (gene)

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Bobby sox homolog (Drosophila)
Symbols BBX ; ARTC1; HBP2; HSPC339; MDS001
External IDs HomoloGene10634 GeneCards: BBX Gene
Species Human Mouse
Entrez 56987 70508
Ensembl ENSG00000114439 ENSMUSG00000022641
UniProt Q8WY36 Q8VBW5
RefSeq (mRNA) NM_001142568 NM_027444
RefSeq (protein) NP_001136040 NP_081720
Location (UCSC) Chr 3:
107.52 – 107.81 Mb
Chr 16:
50.19 – 50.43 Mb
PubMed search [1] [2]

HMG box transcription factor BBX also known as bobby sox homolog or HMG box-containing protein 2 is a protein that in humans is encoded by the BBX gene.[1]

Model organisms[edit]

Model organisms have been used in the study of BBX function. A conditional knockout mouse line, called Bbxtm1a(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 homozygous mutant adult mice and four significant abnormalities were observed.[8] A study of body composition found decreases in bone mineral density and content, and a reduction in body length in female mice, while mutants of both sexes showed a reduction in lean body mass. Radiography found that males had abnormal teeth morphology. Females had a decreased heart weight, and both sexes had reduced IgA levels in their plasma.[8]


  1. ^ "Entrez Gene: bobby sox homolog (Drosophila)". Retrieved 2011-08-30. 
  2. ^ "DEXA data for Bbx". Wellcome Trust Sanger Institute. 
  3. ^ "Radiography data for Bbx". Wellcome Trust Sanger Institute. 
  4. ^ "Haematology data for Bbx". Wellcome Trust Sanger Institute. 
  5. ^ "Heart weight data for Bbx". Wellcome Trust Sanger Institute. 
  6. ^ "Salmonella infection data for Bbx". Wellcome Trust Sanger Institute. 
  7. ^ "Citrobacter infection data for Bbx". Wellcome Trust Sanger Institute. 
  8. ^ a b c d 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. 
  9. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ^ "International Knockout Mouse Consortium". 
  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.  edit
  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. 
  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[edit]