Phenotypes Associated with This Genotype

Genotype
MGI:2174983

• Allelic Composition: Pik3r1^tm1Dfr/Pik3r1^tm1Dfr
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

• ♀: 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

chylous ascites ( J:65523 )

abnormal glucose homeostasis ( J:65523 )

hypoglycemia ( J:65523 )

decreased circulating insulin level ( J:65523 )

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

hepatic necrosis ( J:65523 )

muscle

increased skeletal muscle fiber size ( J:65523 )

• enlarged skeletal muscle fibers

adipose tissue

abnormal brown adipose tissue morphology ( J:65523 )

• brown fat necrosis

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

hepatic necrosis ( J:65523 )

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