AMPD3

AMPD3
Identifiers
Aliases	AMPD3, adenosine monophosphate deaminase 3
External IDs	OMIM: 102772 MGI: 1096344 HomoloGene: 408 GeneCards: AMPD3
Gene location (Human)
Chr.	Chromosome 11 (human)
End	10,507,579 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	110,411,612 bp
RNA expression pattern
	Top expressed in
	tibialis anterior muscle; ; inferior olivary nucleus; ; secondary oocyte; ; trabecular bone; ; right uterine tube; ; bone marrow; ; inferior ganglion of vagus nerve; ; bone marrow cells; ; gastrocnemius muscle; ; bronchial epithelial cell;
	Top expressed in
	belly cord; ; seminal vesicula; ; cervix; ; myocardium of ventricle; ; secondary oocyte; ; dorsal tegmental nucleus; ; soleus muscle; ; medial vestibular nucleus; ; globus pallidus; ; brown adipose tissue;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	hydrolase activity; metal ion binding; deaminase activity; AMP deaminase activity; protein binding;
Cellular component	cytosol; extracellular region; secretory granule lumen; ficolin-1-rich granule lumen;
Biological process	GTP metabolic process; purine ribonucleoside monophosphate biosynthetic process; erythrocyte homeostasis; nucleotide metabolic process; AMP metabolic process; ADP metabolic process; purine-containing compound salvage; IMP salvage; energy homeostasis; ATP metabolic process; AMP catabolic process; IMP biosynthetic process; neutrophil degranulation;
	Sources:Amigo / QuickGO
Orthologs
	272
	11717
	ENSG00000133805
	ENSMUSG00000005686
	Q01432
	O08739
	NM_001172431; NM_000480; NM_001025389; NM_001025390; NM_001172430
	NM_001276301; NM_009667; NM_001372439; NM_001372441
	NP_000471; NP_001020560; NP_001020561; NP_001165901; NP_001165902
	NP_001263230; NP_033797; NP_001359368; NP_001359370
	Wikidata
View/Edit Human	View/Edit Mouse

AMP deaminase 3 is an enzyme that in humans is encoded by the AMPD3 gene.^[5]^[6]

Template:PBB Summary

Model organisms

*Ampd3* knockout mouse phenotype
Characteristic	Phenotype
Homozygote viability	Normal
Homozygous 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
Plasma immunoglobulins	Abnormal
Haematology	Normal
Peripheral blood lymphocytes	Abnormal^[7]
Micronucleus test	Normal
Heart weight	Normal
Tail epidermis wholemount	Normal
Skin Histopathology	Normal
Brain histopathology	Abnormal
Eye Histopathology	Normal
MicroCT & Quantitative Faxitron	Abnormal
Salmonella infection	Normal^[8]
Citrobacter infection	Normal^[9]
All tests and analysis from^[10]^[11]

Model organisms have been used in the study of AMPD3 function. A conditional knockout mouse line, called Ampd3^{tm2a(KOMP)Wtsi}^[12]^[13] 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.^[14]^[15]^[16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[10]^[17] Twenty eight tests were carried out on mutant mice and four significant abnormalities were observed.^[10] Mutant animals had increased IgG1 levels, increased trabecular bone thickness, decreased B cell numbers / increased granulocyte number and unusual brain histopathology (the thickness of the stratum radiatum was reduced and the dorsal 3rd ventricle area was increased).^[10]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000133805 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000005686 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Mahnke-Zizelman DK, Sabina RL (Nov 1992). "Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons". J Biol Chem. 267 (29): 20866–77. PMID 1400401.
^ "Entrez Gene: AMPD3 adenosine monophosphate deaminase (isoform E)".
^ "Peripheral blood lymphocytes data for Ampd3". Wellcome Trust Sanger Institute.
^ "Salmonella infection data for Ampd3". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Ampd3". 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".
^ "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.{{cite journal}}: CS1 maint: multiple names: authors list (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. PMC 3218837. PMID 21722353.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)

Model organisms

References

Further reading