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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pik3r1tm1Dfr
targeted mutation 1, David A Fruman
MGI:2149438
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pik3r1tm1Dfr/Pik3r1tm1Dfr involves: 129S6/SvEvTac MGI:4940203
hm2
 		Pik3r1tm1Dfr/Pik3r1tm1Dfr involves: 129S6/SvEvTac * C57BL/6 MGI:2174983
cx3
 		Pik3r1tm1Dfr/Pik3r1tm1Dfr
Plcg2tm1Jni/Plcg2tm1Jni 		involves: 129P2/OlaHsd * 129S6/SvEvTac MGI:4940201


Genotype
MGI:4940203
hm1
Allelic
Composition		 Pik3r1tm1Dfr/Pik3r1tm1Dfr
Genetic
Background		 involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pik3r1tm1Dfr mutation (1 available); any Pik3r1 mutation (56 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal B cell differentiation ( J:104166 )
• in fetal liver transplant assays into irradiated Jak3tm1Jni homozygotes, B cell differentiation is impeded at the T2 to follicular B cell transition and marginal zone B cell development is impaired compared to in control mice
decreased immature B cell number ( J:104166 )
• slight in fetal liver transplant experiments into irradiated Jak3tm1Jnihomozygotes
increased pro-B cell number ( J:104166 )
• slight in fetal liver transplant experiments into irradiated Jak3tm1Jnihomozygotes
decreased mature B cell number ( J:104166 )
• dramatic in fetal liver transplant experiments into irradiated Jak3tm1Jnihomozygotes
decreased pre-B cell number ( J:104166 )
• markedly in fetal liver transplant experiments into irradiated Jak3tm1Jnihomozygotes

hematopoietic system
abnormal B cell differentiation ( J:104166 )
• in fetal liver transplant assays into irradiated Jak3tm1Jni homozygotes, B cell differentiation is impeded at the T2 to follicular B cell transition and marginal zone B cell development is impaired compared to in control mice
decreased immature B cell number ( J:104166 )
• slight in fetal liver transplant experiments into irradiated Jak3tm1Jnihomozygotes
increased pro-B cell number ( J:104166 )
• slight in fetal liver transplant experiments into irradiated Jak3tm1Jnihomozygotes
decreased mature B cell number ( J:104166 )
• dramatic in fetal liver transplant experiments into irradiated Jak3tm1Jnihomozygotes
decreased pre-B cell number ( J:104166 )
• markedly in fetal liver transplant experiments into irradiated Jak3tm1Jnihomozygotes




Genotype
MGI:2174983
hm2
Allelic
Composition		 Pik3r1tm1Dfr/Pik3r1tm1Dfr
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pik3r1tm1Dfr mutation (1 available); any Pik3r1 mutation (56 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, incomplete penetrance ( J:52229 )
• less than 5% survive beyond 7 days of age

immune system
decreased B cell proliferation ( J:52229 )
• reduced proliferative responses
arrested B cell differentiation ( J:52229 )
• development impaired at the pro-B cell stage
decreased mature B cell number ( J:52229 )
• reduced numbers of mature B cells

homeostasis/metabolism
improved glucose tolerance ( J:65523 )
• increased glucose tolerance in glucose tolerance tests

cardiovascular system
dystrophic cardiac calcinosis ( J:65523 )
• calcification of cardiac tissue

liver/biliary system

muscle
increased skeletal muscle fiber size ( J:65523 )
• enlarged skeletal muscle fibers

adipose tissue

hematopoietic system
decreased B cell proliferation ( J:52229 )
• reduced proliferative responses
arrested B cell differentiation ( J:52229 )
• development impaired at the pro-B cell stage
decreased mature B cell number ( J:52229 )
• reduced numbers of mature B cells

cellular
decreased B cell proliferation ( J:52229 )
• reduced proliferative responses

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
X-linked agammaglobulinemia DOID:14179 OMIM:300755
 J:52229 , J:65523




Genotype
MGI:4940201
cx3
Allelic
Composition		 Pik3r1tm1Dfr/Pik3r1tm1Dfr
Plcg2tm1Jni/Plcg2tm1Jni
Genetic
Background		 involves: 129P2/OlaHsd * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pik3r1tm1Dfr mutation (1 available); any Pik3r1 mutation (56 available)
Plcg2tm1Jni mutation (1 available); any Plcg2 mutation (74 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
lethality throughout fetal growth and development, complete penetrance ( J:104166 )
• mice die between E16 and E17 with the exception of one mouse which was runted and died within 1 day of birth

immune system
immune system phenotype ( J:104166 )
N
• T cell development is normal in fetal liver transplantation assays into irradiated Jak3tm1Jni homozygotes
increased B cell apoptosis ( J:104166 )
• in the bone marrow following fetal liver transplant into irradiated Jak3tm1Jni homozygotes
abnormal B cell differentiation ( J:104166 )
• in fetal liver transplant experiments into irradiated Jak3tm1Jni homozygotes, the pro- to pre-B cell transition is impeded compared to in control mice
decreased immature B cell number ( J:104166 )
• in fetal liver transplant experiments into irradiated Jak3tm1Jni homozygotes
arrested B cell differentiation ( J:104166 )
• in fetal liver transplant experiments into irradiated Jak3tm1Jni homozygotes, peripheral B cell development is blocked compared to in control mice
decreased mature B cell number ( J:104166 )
• dramatic in fetal liver transplant experiments into irradiated Jak3tm1Jni homozygotes
decreased pre-B cell number ( J:104166 )
• in fetal liver transplant experiments into irradiated Jak3tm1Jni homozygotes

growth/size/body
decreased body size ( J:104166 )
• single mouse born

hematopoietic system
hematopoietic system phenotype ( J:104166 )
N
• hematopoiesis is normal
increased B cell apoptosis ( J:104166 )
• in the bone marrow following fetal liver transplant into irradiated Jak3tm1Jni homozygotes
abnormal B cell differentiation ( J:104166 )
• in fetal liver transplant experiments into irradiated Jak3tm1Jni homozygotes, the pro- to pre-B cell transition is impeded compared to in control mice
decreased immature B cell number ( J:104166 )
• in fetal liver transplant experiments into irradiated Jak3tm1Jni homozygotes
arrested B cell differentiation ( J:104166 )
• in fetal liver transplant experiments into irradiated Jak3tm1Jni homozygotes, peripheral B cell development is blocked compared to in control mice
decreased mature B cell number ( J:104166 )
• dramatic in fetal liver transplant experiments into irradiated Jak3tm1Jni homozygotes
decreased pre-B cell number ( J:104166 )
• in fetal liver transplant experiments into irradiated Jak3tm1Jni homozygotes

cellular
increased B cell apoptosis ( J:104166 )
• in the bone marrow following fetal liver transplant into irradiated Jak3tm1Jni homozygotes




Contributing Projects:
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
11/12/2024
MGI 6.24 		The Jackson Laboratory