Table 4.

Phenotypes of mutants with disrupted purinergic signalling

Gene	Studies	Phenotype	References
Mouse
A1 KO	Behavioural/Physiological	Increase of aggressiveness; defects in TGF	[20, 125]
A2A KO	Behavioural/Physiological/histological	Increase of aggressiveness and blood pressure; Neuroprotection, No neuronal developmental defects	[126, 127]
A2B KO	Physiological	Inflammation responses	[23, 128]
A3 KO	Physiological	Defects in inflammatory responses.	[49]
P2X1 KO	Physiological	Male infertility	[19]
P2X2 KO	Physiological/Behavioural/	No gross phenotype	[46]
P2X3 KO	Physiological	Defects in pain responses and bladder function	[18, 47]
	Behavioural
P2X2/P2X3 KO	Physiological/behavioural	Lethal (at P7) and defects in sensory response	[46]
P2X4 KO	Physiological	Defects in vascular tone and remodelling; Defects in synaptic potentiation; involvement in recruited macrophages	[21, 22, 129]
P2X7 KO	Physiological	Defects in cytokine production, in pain response	[130, 131]
P2Y1 KO	Physiological	Defects in platelet aggregation and thrombosis	[52, 53]
P2Y2 KO	Physiological (isolated cells or organs)	Defects in calcium and chloride transport	[132, 133]
P2Y4 KO	Physiological (isolated organs)	Defects in chloride transport	[45]
P2Y6 KO	Physiological (isolated cells and trachea)	Defects in UDP response in macrophages, VSM and endothelial cells.	[134]
P2Y12 KO	Physiological	Defects in platelet thrombosis	[135, 136]
P2Y13 KO	Physiological	Defects in cholesterol metabolism	[137]
P2Y14 KO	Physiological	Defects in stomach muscle contractility	[24]
ENTPD1 KO	Physiological	Defects in hemostasis and thromboregulation	[138]
5′-NT KO	Physiological (in vivo and isolated cells or nephrons)	Defects in TGF	[139, 140]
ENPP1	ENU mutagenesis	Defects in mineralization and calcification	[141]
ENPP1	Spontaneous mutation	Defects in ossification	[142]
ENPP2 KO	Developmental	Lethal (E9.5), defects in neural system and vascular development	[143, 144]
PAP KO	Physiological	Increase of nociceptive responses	[37]
TNAP KO	Developmental	Lethal(before weaning) Defects in bone mineralization and neural tube abnormalities	[145]
EAP KO	Developmental	Delay in development; blastocyst degeneration; reduction in litter size	[146]
A1 KI (cardiac promoter)	Physiological	Lethal (between 6 and 12 weeks) congestive heart failure	[56]
A3 KI (muscle promoter)	Histological	Lethal (before E8.5)	[57]
Adenosine	In vitro culture	Blocks development at the 2-cell stage.	[36]
Xenopus
MO ENTPD2	Developmental	Loss of eye	[51]
MO P2Y1
P1 receptor agonists	Developmental	Defects in somite formation; reduction of myoD expression	[61]
P1 receptor antagonists	Pharmacological screen	Defects in angiogenesis and lymphangiogenesis	[147]
P2 receptor antagonists	Developmental	Defects in gastrulation, formation of ventralized embryos	[148]
Zebrafish
MO P2X3.1	Developmental	Defects in craniofacial development and sensory circuit formation	[55]
Chick
P1 receptor agonists	Developmental	Defects in heart looping	[60]
Adenosine	Physiological	Defects in vascular development	[59]
Other organisms
Starfish
Adenosine	Developmental	Blocks development at the 256-cell stage.	[58]
Dictyostelium
Quintuple dP2X KO		Disruption of intracellular calcium signalling	[149]
dP2X KO		Defects of osmoregulation	[150]

For mouse, only papers referring to mouse transgenic generation are listed

KO knock-out, KI knock-in, MO morpholino antisense oligonucleotide knock down of expression, TGF tubuloglomerular feedback, VSM vascular smooth muscle