User:Rockpocket/MGP/HP1BP3
| Heterochromatin protein 1, binding protein 3 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | HP1BP3 | ||||||
| Alt. symbols | HP1-BP74 | ||||||
| NCBI gene | 50809 | ||||||
| HGNC | 24973 | ||||||
| RefSeq | NM_016287 | ||||||
| UniProt | Q5SSJ5 | ||||||
| Other data | |||||||
| Locus | Chr. 1 p36.12 | ||||||
| |||||||
Heterochromatin protein 1, binding protein 3 is a protein that in humans is encoded by the HP1BP3 gene on chromosome 1.
Model organisms
[edit]Model organisms have been used in the study of HP1BP3 function. A conditional knockout mouse line, called Hp1bp3tm1a(EUCOMM)Wtsi[1][2] 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.[3][4][5] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][7]
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Abnormal |
| Recessive lethal study | Normal |
| Fertility | Normal |
| Body weight | Abnormal[8] |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Abnormal[9] |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Abnormal[10] |
| Haematology | Normal |
| Peripheral blood lymphocytes | Abnormal |
| Micronucleus test | Normal |
| Heart weight | Abnormal[11] |
| Eye Histopathology | Normal |
| Citrobacter infection | Normal[12] |
| All tests and analysis from[6] |
Twenty three tests were carried out and six significant phenotypes were reported. Fewer homozygous mutant embryos were identified during gestation than predicted by Mendelian ratio. Homozygous mutant female adults had decreased body weight, heart weight and bone mineral density, and increased blood urea levels and T cell number.[6]
References
[edit]- ^ "International Knockout Mouse Consortium".
- ^ "Mouse Genome Informatics".
- ^ 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.
- ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474: 262-263. doi:10.1038/474262a.
{{cite web}}: CS1 maint: location (link) CS1 maint: year (link) - ^ 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.
{{cite book}}: CS1 maint: location (link) CS1 maint: location missing publisher (link) CS1 maint: multiple names: authors list (link) CS1 maint: year (link) - ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Opthalmologica 88: 925-7.doi:10.1111/j.1755-3768.2010.4142.x: Wiley.
{{cite web}}: CS1 maint: location (link) - ^ 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. PMID 21722353.
{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ "Body weight data for Hp1bp3". Wellcome Trust Sanger Institute.
- ^ "DEXA data for Hp1bp3". Wellcome Trust Sanger Institute.
- ^ "Clinical chemistry data for Hp1bp3". Wellcome Trust Sanger Institute.
- ^ "Heart weight data for Hp1bp3". Wellcome Trust Sanger Institute.
- ^ "Citrobacter infection data for Hp1bp3". Wellcome Trust Sanger Institute.