Phenotypes associated with this allele

• Allele Symbol: Pik3r1⁺
• Allele Name: wild type
• Allele ID: MGI:2152809
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pik3r1^M2Btlr/Pik3r1^+	C57BL/6J-Pik3r1^M2Btlr	MGI:6113587
ht2	Pik3r1^tm2Dfr/Pik3r1^+	involves: 129S6/SvEvTac * BALB/c * C57BL/6	MGI:4818444
ht3	Pik3r1^tm1.1Geno/Pik3r1^+	involves: C57BL/6 * C57BL/6J	MGI:6275834
cn4	Kras^tm4Tyj/Kras^+ Pik3r1^tm1Lca/Pik3r1^+ Pik3r2^tm1Lca/Pik3r2^tm1Lca	involves: 129S4/SvJae * 129S6/SvEvTac	MGI:3834445

Genotype
MGI:6113587

ht1

• Allelic Composition: Pik3r1^M2Btlr/Pik3r1⁺
• Genetic Background: C57BL/6J-Pik3r1^M2Btlr

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

decreased B-1 B cell number ( J:254892 )

• in the peripheral blood

decreased B-1a cell number ( J:254892 )

• in the peripheral blood

decreased B-1b cell number ( J:254892 )

• in the peripheral blood

decreased B-2 B cell number ( J:254892 )

• in the peripheral blood

increased B-1b cell number ( J:254892 )

• in the peripheral blood

decreased NK T cell number ( J:254892 )

• in the peripheral blood

hematopoietic system

decreased B-1 B cell number ( J:254892 )

• in the peripheral blood

decreased B-1a cell number ( J:254892 )

• in the peripheral blood

decreased B-1b cell number ( J:254892 )

• in the peripheral blood

decreased B-2 B cell number ( J:254892 )

• in the peripheral blood

increased B-1b cell number ( J:254892 )

• in the peripheral blood

decreased NK T cell number ( J:254892 )

• in the peripheral blood

Genotype
MGI:4818444

ht2

• Allelic Composition: Pik3r1^tm2Dfr/Pik3r1⁺
• Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6

homeostasis/metabolism

hypoglycemia ( J:94077 )

improved glucose tolerance ( J:94077 )

increased insulin sensitivity ( J:94077 )

Genotype
MGI:6275834

ht3

• Allelic Composition: Pik3r1^tm1.1Geno/Pik3r1⁺
• Genetic Background: involves: C57BL/6 * C57BL/6J

adipose tissue

decreased subcutaneous adipose tissue amount ( J:234657 )

• mice show a reduction in subcutaneous adipose tissue mass at 12 weeks of age

• mice show a decrease in subcutaneous adipose tissue at 9 months of age, with an overall decrease in adipose tissue mass and a higher frequency of small adipocytes in this depot

• however, no change in interscapular brown adipose tissue mass or lean mass is seen

decreased white fat cell size ( J:234657 )

• decrease in average adipocyte size in subcutaneous adipose tissue

• subcutaneous adipose tissue shows a change in adipocyte size distribution, with a higher frequency of smaller adipocytes

• however, the percentage of adipose tissue progenitor cells isolated from the stromovascular fraction of epididymal and subcutaneous adipose tissue does not differ

abnormal epididymal fat pad morphology ( J:234657 )

• mice show a decrease in epididymal adipose tissue at 9 months of age, with an overall decrease in adipose tissue mass and a higher frequency of small adipocytes in this depot

lipodystrophy ( J:234657 )

• mice exhibit partial lipodystrophy

decreased adipocyte glucose uptake ( J:234657 )

• white adipose tissue shows an impairment in glucose uptake

• howeover, no difference in skeletal muscle and brown adipose tissue glucose uptake is seen

endocrine/exocrine glands

pancreatic islet hyperplasia ( J:234657 )

• by 12 weeks of age, islets are larger and a 47% increase in islet area is seen

decreased insulin secretion ( J:234657 )

• secretion of insulin from islets is defective; mutant islets do not show an increase in insulin levels 2 minutes after glucose administration as is seen in controls

• islets do not exhibit an increase in insulin secretion when transitioned from low to high glucose as in control islets

growth/size/body

decreased body size ( J:234657 )

decreased body weight ( J:234657 )

• both males and females have decreases in body weight over the first 3 months, with this difference persisting at 6 months

• males weigh 12.8% less than controls at 6 months of age

• however, food and water consumption are unchanged when adjusted for body weight

decreased body length ( J:234657 )

• body length is decreased at 12 weeks of age

homeostasis/metabolism

decreased insulin secretion ( J:234657 )

• secretion of insulin from islets is defective; mutant islets do not show an increase in insulin levels 2 minutes after glucose administration as is seen in controls

• islets do not exhibit an increase in insulin secretion when transitioned from low to high glucose as in control islets

hyperglycemia ( J:234657 )

♂ • fed males exhibit hyperglycemia

increased circulating insulin level ( J:234657 )

• fed serum insulin levels are elevated in females

• both fasted and fed insulin levels are elevated in males

• however, liver histology, circulating free fatty acids, and triglycerides are unaltered and oxygen consumption, carbon dioxide production, and respiratory exchange ratio are normal

increased circulating insulin-like growth factor I level ( J:234657 )

• mice show a modest, but significant, elevation in serum IGF-1 levels

impaired glucose tolerance ( J:234657 )

• both males and females show an elevation of glucose levels during an intraperitoneal glucose tolerance test

insulin resistance ( J:234657 )

• both males and females show no decrease in blood glucose during an insulin tolerance test indicating insulin resistance

• euglycemic-hyperinsulinemic clamps show a marked insulin resistance in males, with a 58% reduction in glucose infusion rate and a concomitant decrease in the rate of glucose turnover

• hepatic glucose production is only suppressed by 76% compared to 100% in controls in response to insulin

integument

decreased subcutaneous adipose tissue amount ( J:234657 )

• mice show a reduction in subcutaneous adipose tissue mass at 12 weeks of age

• mice show a decrease in subcutaneous adipose tissue at 9 months of age, with an overall decrease in adipose tissue mass and a higher frequency of small adipocytes in this depot

• however, no change in interscapular brown adipose tissue mass or lean mass is seen

cellular

decreased adipocyte glucose uptake ( J:234657 )

• white adipose tissue shows an impairment in glucose uptake

• howeover, no difference in skeletal muscle and brown adipose tissue glucose uptake is seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
SHORT syndrome		DOID:0111454	OMIM:269880	J:234657

Genotype
MGI:3834445

cn4

• Allelic Composition: Kras^tm4Tyj/Kras⁺; Pik3r1^tm1Lca/Pik3r1⁺; Pik3r2^tm1Lca/Pik3r2^tm1Lca
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

neoplasm

increased lung tumor incidence ( J:142254 )

• following administration of inhaled adenovirus cre

respiratory system

increased lung tumor incidence ( J:142254 )

• following administration of inhaled adenovirus cre