ARHGAP18
Rho GTPase activating protein 18 is a protein that in humans is encoded by the ARHGAP18 gene.[1] The gene is also known as MacGAP and bA307O14.2.[1] ARHGAP18 belongs to a family of Rho GTPase-activating proteins that modulate cell signaling.[2]
Model organisms[]
Characteristic | Phenotype |
---|---|
Homozygote viability | Normal |
Recessive lethal study | Abnormal |
Fertility | Normal |
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 | Normal |
Micronucleus test | Normal |
Heart weight | Normal |
Brain histopathology | Normal |
Salmonella infection | Normal[3] |
Citrobacter infection | Normal[4] |
All tests and analysis from[5][6] |
Model organisms have been used in the study of ARHGAP18 function. A conditional knockout mouse line, called Arhgap18tm1a(KOMP)Wtsi[7][8] 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.[9][10][11]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty three tests were carried out on mutant mice and one significant abnormality was observed.[5] Fewer than expected homozygous mutant embryos were identified during gestation.[5]
References[]
- ^ a b "Rho GTPase activating protein 18". Retrieved 2011-12-05.
- ^ Potkin, S. G.; Turner, J. A.; Fallon, J. A.; Lakatos, A.; Keator, D. B.; Guffanti, G.; MacCiardi, F. (2008). "Gene discovery through imaging genetics: Identification of two novel genes associated with schizophrenia". Molecular Psychiatry. 14 (4): 416–428. doi:10.1038/mp.2008.127. PMC 3254586. PMID 19065146.
- ^ "Salmonella infection data for Arhgap18". Wellcome Trust Sanger Institute.
- ^ "Citrobacter infection data for Arhgap18". 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. S2CID 85911512.
- ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ^ "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 (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. S2CID 18872015.
- ^ 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[]
- Cronin, S.; Tomik, B.; Bradley, D. G.; Slowik, A.; Hardiman, O. (2008). "Screening for replication of genome-wide SNP associations in sporadic ALS". European Journal of Human Genetics. 17 (2): 213–218. doi:10.1038/ejhg.2008.194. PMC 2986065. PMID 18987618.
- Wang, A. G.; Yoon, S. Y.; Oh, J. H.; Jeon, Y. J.; Kim, M.; Kim, J. M.; Byun, S. S.; Yang, J. O.; Kim, J. H.; Kim, D. G.; Yeom, Y. I.; Yoo, H. S.; Kim, Y. S.; Kim, N. S. (2006). "Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags". Biochemical and Biophysical Research Communications. 345 (3): 1022–1032. doi:10.1016/j.bbrc.2006.04.175. PMID 16712791.
- Human proteins
- Genes mutated in mice
- Human chromosome 6 gene stubs