DIP2B

DIP2 disco-interacting protein 2 homolog B (Drosophila) is a protein that in humans is encoded by the DIP2B gene.^[1] A member of the disco-interacting protein homolog 2 protein family, it contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1, as well as AMP-binding sites. The presence of these sites suggests that DIP2B may participate in DNA methylation. This gene is located near a folate-sensitive fragile site.^[1]^[2]

Model organisms

*Dip2b* knockout mouse phenotype
Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Normal
Fertility	Abnormal
Body weight	Normal
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	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Abnormal^[3]
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Eye Histopathology	Normal
Salmonella infection	Normal^[4]
Citrobacter infection	Normal^[5]
All tests and analysis from^[6]^[7]

Model organisms have been used in the study of DIP2B function. A conditional knockout mouse line, called Dip2b^{tm1a(EUCOMM)Wtsi}^[8]^[9] 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.^[10]^[11]^[12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[6]^[13] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.^[6] Few homozygous mutant mice survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; abnormal fertility and decreased mean corpuscular haemoglobin levels were observed in these animals.^[6]

References

^ ^a ^b "DIP2 disco-interacting protein 2 homolog B (Drosophila)". Retrieved 2011-12-05.
^ Winnepenninckx, B.; Debacker, K.; Ramsay, J.; Smeets, D.; Smits, A.; Fitzpatrick, D. R.; Kooy, R. F. (2007). "CGG-Repeat Expansion in the DIP2B Gene is Associated with the Fragile Site FRA12A on Chromosome 12q13.1". The American Journal of Human Genetics. 80 (2): 221–231. doi:10.1086/510800. PMC 1785358. PMID 17236128.
^ "Haematology data for Dip2b". Wellcome Trust Sanger Institute.
^ "Salmonella infection data for Dip2b". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Dip2b". Wellcome Trust Sanger Institute.
^ ^a ^b ^c ^d 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.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium".^{[permanent dead link]}
^ "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 (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ 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.
^ 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

Model organisms

References

Further reading