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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		P2rx7tm1Gab
targeted mutation 1, Christopher A Gabel
MGI:2386080
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		P2rx7tm1Gab/P2rx7tm1Gab B6.129P2-P2rx7tm1Gab/J MGI:5451197
hm2
 		P2rx7tm1Gab/P2rx7tm1Gab either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2) MGI:3042215
hm3
 		P2rx7tm1Gab/P2rx7tm1Gab involves: 129P2/OlaHsd * C57BL/6 MGI:5297178
cx4
 		Enpp3tm1Ktak/Enpp3tm1Ktak
P2rx7tm1Gab/P2rx7tm1Gab 		either: (involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6) or (involves: 129P2/OlaHsd * 129S4/SvJae * BALB/c * C57BL/6) MGI:5755629


Genotype
MGI:5451197
hm1
Allelic
Composition		 P2rx7tm1Gab/P2rx7tm1Gab
Genetic
Background		 B6.129P2-P2rx7tm1Gab/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
P2rx7tm1Gab mutation (2 available); any P2rx7 mutation (54 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal mast cell physiology ( J:190651 )
• however, cells exhibit normal citrullination in response to PMA and ionomycin stimulation
• bone marrow-derived mast cells fail to exhibit ATP-stimulated citrullination unlike wild-type cells

hematopoietic system
abnormal mast cell physiology ( J:190651 )
• bone marrow-derived mast cells fail to exhibit ATP-stimulated citrullination unlike wild-type cells
• however, cells exhibit normal citrullination in response to PMA and ionomycin stimulation




Genotype
MGI:3042215
hm2
Allelic
Composition		 P2rx7tm1Gab/P2rx7tm1Gab
Genetic
Background		 either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
P2rx7tm1Gab mutation (2 available); any P2rx7 mutation (54 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal cell death ( J:89513 )
• lysis triggered by extracellular ATP does not occur

growth/size/body
decreased body weight ( J:84145 )
• although body weight was normal in males at birth, it was about 16% less than normal at 9 months of age

immune system
increased osteoclast cell number ( J:84145 )
• increased number of osteoclasts in tibial trabecular bone
decreased interleukin-1 beta secretion ( J:66835 )
• although pro-Il1beta is produced by peritoneal machrophages, no mature IL-1beta is produced or released as a result of ATP challenge
abnormal interleukin-6 secretion ( J:66835 )
• IL-6 release as a result of ATP challenge as opposed to PBS challenge increases similar to wild-type mice after 30 minutes
• 120 minutes after ATP challenge, IL-6 release drops as compared to continued increase in wild-type mice, although still greater than after a PBS challenge

limbs/digits/tail

skeleton
increased osteoclast cell number ( J:84145 )
• increased number of osteoclasts in tibial trabecular bone
decreased diameter of long bones ( J:84145 )
• diameters of femurs and tibia were reduced although lengths were normal
abnormal skeleton development ( J:84145 )
• lower total bone content
abnormal skeleton physiology ( J:84145 )
• reduced periosteal bone expansion in long bones

hematopoietic system
increased osteoclast cell number ( J:84145 )
• increased number of osteoclasts in tibial trabecular bone




Genotype
MGI:5297178
hm3
Allelic
Composition		 P2rx7tm1Gab/P2rx7tm1Gab
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
P2rx7tm1Gab mutation (2 available); any P2rx7 mutation (54 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:178055 )
N
• calcium signal propagation in cochlear cultures is normal
• sensitivity to extracellular calcium and ectonucleaotidase activity is normal




Genotype
MGI:5755629
cx4
Allelic
Composition		 Enpp3tm1Ktak/Enpp3tm1Ktak
P2rx7tm1Gab/P2rx7tm1Gab
Genetic
Background		 either: (involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6) or (involves: 129P2/OlaHsd * 129S4/SvJae * BALB/c * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Enpp3tm1Ktak mutation (0 available); any Enpp3 mutation (93 available)
P2rx7tm1Gab mutation (2 available); any P2rx7 mutation (54 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
immune system phenotype ( J:223825 )
N
• unlike in Enpp3tm1Ktak homozygotes, basophil and mast cell IL4 and IL6 production normal
increased basophil cell number ( J:223825 )
• in the peripheral blood and spleen compared with wild-type mice but not as much as in Enpp3tm1Ktak homozygotes
increased mast cell number ( J:223825 )
• in the small and large intestines compared with wild-type mice but not as much as in Enpp3tm1Ktak homozygotes

hematopoietic system
increased basophil cell number ( J:223825 )
• in the peripheral blood and spleen compared with wild-type mice but not as much as in Enpp3tm1Ktak homozygotes
increased mast cell number ( J:223825 )
• in the small and large intestines compared with wild-type mice but not as much as in Enpp3tm1Ktak homozygotes




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory