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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pip4k2ctm1b(KOMP)Wtsi
targeted mutation 1b, Wellcome Trust Sanger Institute
MGI:5629320
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pip4k2ctm1b(KOMP)Wtsi/Pip4k2ctm1b(KOMP)Wtsi C57BL/6N-Pip4k2ctm1b(KOMP)Wtsi/J MGI:6263165
hm2
Pip4k2ctm1b(KOMP)Wtsi/Pip4k2ctm1b(KOMP)Wtsi involves: C57BL/6J * C57BL/6N MGI:5817355


Genotype
MGI:6263165
hm1
Allelic
Composition
Pip4k2ctm1b(KOMP)Wtsi/Pip4k2ctm1b(KOMP)Wtsi
Genetic
Background
C57BL/6N-Pip4k2ctm1b(KOMP)Wtsi/J
Cell Lines EPD0383_6_B01
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pip4k2ctm1b(KOMP)Wtsi mutation (1 available); any Pip4k2c mutation (32 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
IMPC - JAX

hearing/vestibular/ear

homeostasis/metabolism




Genotype
MGI:5817355
hm2
Allelic
Composition
Pip4k2ctm1b(KOMP)Wtsi/Pip4k2ctm1b(KOMP)Wtsi
Genetic
Background
involves: C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pip4k2ctm1b(KOMP)Wtsi mutation (1 available); any Pip4k2c mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Immune infiltrates in the liver from Pip4k2ctm1b(KOMP)Wtsi/Pip4k2ctm1b(KOMP)Wtsi mice

cellular
• in culture, CD4+ T cells isolated from spleen are hypersensitive to anti-CD3 plus anti-CD28 stimulated proliferation, as measured by 3H-thymidine incorporation

immune system
• increased CD4+ T cell number in spleen at 12-14 months of age
• increased CD8+ T cell number in spleen at 12-14 months of age
• decreased number of Foxp3+CD4+ Treg cells in spleen at 12-14 months of age
• increased plasma IgG3 levels at 12 months of age, consistent with increased T cell-derived IL-17 levels
• at 12-14 months of age, mice exhibit an increase in CD44+ active T cells and a decrease in CD62L+ naive T cells, suggesting that T cells are hyperactivated
• in culture, CD4+ T cells isolated from spleen are hypersensitive to anti-CD3 plus anti-CD28 stimulated proliferation, as measured by 3H-thymidine incorporation
• increased plasma MCP-1 levels at 12-14 months of age
• increased plasma interferon-gamma levels at 12-14 months of age
• plasma interferon-gamma levels are somewhat reduced at 24 h of rapamycin treatment and return to basal (pre-treatment) levels after 2 weeks of rapamycin treatment, similar to what is observed in wild-type controls
• increased plasma IL-10 levels at 12-14 months of age
• increased plasma IL-12 levels at 12-14 months of age
• plasma IL-12(p70) levels are not significantly altered in response to rapamycin treatment, similar to what is observed in wild-type controls
• increased plasma levels of IL-12(p40) levels at 12-14 months of age
• plasma levels of IL-12(p40) are reduced to wild-type levels at 24 h of rapamycin treatment and remain suppressed after 2 weeks of treatment; in contrast, rapamycin has no significant effect on plasma IL-12(p40) in wild-type controls
• increased plasma IL-2 levels at 12-14 months of age
• plasma IL-2 levels are not significantly altered in response to rapamycin treatment, similar to what is observed in wild-type controls
• increased plasma IL-4 levels at 12-14 months of age
• increased interferon-gamma secretion by CD4+ T cells isolated from spleen
• increased IL-17 secretion by CD4+ T cells isolated from spleen
• ratio of immune infiltrates per total area is significantly increased in liver tissue, indicating chronic inflammation without a specific trigger such as infection or injury
• mice develop enhanced immune responses resulting in autoimmunity
• mammalian target of rapamycin complex 1 (mTORC1) signaling is highly activated in several tissues
• hyperimmune phenotype can be partially ameliorated by treatment with rapamycin, the allosteric mTORC1 inhibitor
• immune cell infiltration in the intestine at 12-14 months of age
• immune cell infiltration in the salivary gland at 12-14 months of age
• immune cell infiltration in the liver at 12-14 months of age
• infiltrating immune cells in liver tissue are predominantly CD3+ T cells and B220+ B cells
• ratio of immune infiltrates per total area is significantly increased in liver tissue, indicating chronic inflammation
• area of immune infiltrates in liver is dramatically reduced after 2 weeks of rapamycin treatment
• immune cell infiltration in the kidney at 12-14 months of age
• immune cell infiltration in the lungs at 12-14 months of age

homeostasis/metabolism
N
• mice do not exhibit enhanced insulin sensitivity and are not protected from obesity on a high-fat diet
• decreased blood urea nitrogen levels at 12 months of age
• increased plasma VEGF levels at 12-14 months of age
• increased plasma MCP-1 levels at 12-14 months of age
• increased plasma interferon-gamma levels at 12-14 months of age
• plasma interferon-gamma levels are somewhat reduced at 24 h of rapamycin treatment and return to basal (pre-treatment) levels after 2 weeks of rapamycin treatment, similar to what is observed in wild-type controls
• increased plasma IL-10 levels at 12-14 months of age
• increased plasma IL-12 levels at 12-14 months of age
• plasma IL-12(p70) levels are not significantly altered in response to rapamycin treatment, similar to what is observed in wild-type controls
• increased plasma levels of IL-12(p40) levels at 12-14 months of age
• plasma levels of IL-12(p40) are reduced to wild-type levels at 24 h of rapamycin treatment and remain suppressed after 2 weeks of treatment; in contrast, rapamycin has no significant effect on plasma IL-12(p40) in wild-type controls
• increased plasma IL-2 levels at 12-14 months of age
• plasma IL-2 levels are not significantly altered in response to rapamycin treatment, similar to what is observed in wild-type controls
• increased plasma IL-4 levels at 12-14 months of age
• increased plasma aspartate transaminase (AST) levels at 12 months of age
• however, plasma alanine transaminase (ALT) levels are normal

hematopoietic system
• increased CD4+ T cell number in spleen at 12-14 months of age
• increased CD8+ T cell number in spleen at 12-14 months of age
• decreased number of Foxp3+CD4+ Treg cells in spleen at 12-14 months of age
• increased plasma IgG3 levels at 12 months of age, consistent with increased T cell-derived IL-17 levels
• at 12-14 months of age, mice exhibit an increase in CD44+ active T cells and a decrease in CD62L+ naive T cells, suggesting that T cells are hyperactivated
• in culture, CD4+ T cells isolated from spleen are hypersensitive to anti-CD3 plus anti-CD28 stimulated proliferation, as measured by 3H-thymidine incorporation

liver/biliary system
• immune cell infiltration in the liver at 12-14 months of age
• infiltrating immune cells in liver tissue are predominantly CD3+ T cells and B220+ B cells
• ratio of immune infiltrates per total area is significantly increased in liver tissue, indicating chronic inflammation
• area of immune infiltrates in liver is dramatically reduced after 2 weeks of rapamycin treatment
• pale livers are occasionally seen in mice at >12 months of age

digestive/alimentary system
• immune cell infiltration in the intestine at 12-14 months of age
• immune cell infiltration in the salivary gland at 12-14 months of age

renal/urinary system
• immune cell infiltration in the kidney at 12-14 months of age

respiratory system
• immune cell infiltration in the lungs at 12-14 months of age

endocrine/exocrine glands
• immune cell infiltration in the salivary gland at 12-14 months of age

growth/size/body
N
• mice develop normally and grow into adulthood with no obvious growth abnormalities





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory