Mouse Genome Informatics
hm1
    Pik3r1tm1Tka/Pik3r1tm1Tka
involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 80% of mice die within 10 weeks of birth due to bacterial infection

immune system
• the number of IgM+CD5+Ly-1 B cells in the peritoneal cavity is reduced compared to in wild-type mice
• the number of mature B220+IgM+ B cells in the spleen, bone marrow an lymph nodes is less than half of wild-type
• IgMloIgDhi mature B cells in the spleen is reduced
• B220+CD43- pre-B cells in the bone marrow are reduced compared to in wild-type mice
• B220+CD43+ pro-B cells in the bone marrow are reduced compared to in wild-type mice
• entry into the cell cycle and, by consequence proliferation, of B cells in response to anti-IgM antibodies is delayed compared to in wild-type mice
• in response to treatment with anti-IgM antibodies, apoptosis of B cells increased unlike in wild-type mice
• B cell proliferation is impaired in response to LPS, anti-IgM, and anti-CD40 treatment (J:52228)
• however, proliferation in response to a phorbol ester and ionomycin is normal (J:52228)
• mice do not produce anti-DNP antibodies when stimulated with DNP-Ficoll
• however, mice produce anti-DNP antibodies when stimulated with DNP-KLH
• 80% of mice die within 10 weeks of birth due to bacterial infection

homeostasis/metabolism
• 114+/-5 mg/dl compared to 140+/-4 mg/dl in wild-type mice when loaded with glucose, mice exhibit a smaller increase in glucose levels
• when loaded with insulin
• when loaded with glucose, mice exhibit a smaller increase in insulin levels

adipose tissue
• C14 glucose uptake in adipocytes is increased 199% and 159% compared to wild-type mice at basal and 10 nM insulin, respectively
• 2-3-O-methylglucose uptake is increased 2 to 3-fold compared to in wild-type mice at physiological concentrations of insulin (0.1-1.0 nM)

muscle
• 2-deoxy-glucose uptake is in the soleus muscle is increased 133% and 140% compared to wild-type at basal and 10 nM insulin, respectively

hematopoietic system
• the number of IgM+CD5+Ly-1 B cells in the peritoneal cavity is reduced compared to in wild-type mice
• the number of mature B220+IgM+ B cells in the spleen, bone marrow an lymph nodes is less than half of wild-type
• IgMloIgDhi mature B cells in the spleen is reduced
• B220+CD43- pre-B cells in the bone marrow are reduced compared to in wild-type mice
• B220+CD43+ pro-B cells in the bone marrow are reduced compared to in wild-type mice
• entry into the cell cycle and, by consequence proliferation, of B cells in response to anti-IgM antibodies is delayed compared to in wild-type mice
• in response to treatment with anti-IgM antibodies, apoptosis of B cells increased unlike in wild-type mice
• B cell proliferation is impaired in response to LPS, anti-IgM, and anti-CD40 treatment (J:52228)
• however, proliferation in response to a phorbol ester and ionomycin is normal (J:52228)

cellular
• 2-deoxy-glucose uptake is in the soleus muscle is increased 133% and 140% compared to wild-type at basal and 10 nM insulin, respectively

Mouse Models of Human Disease
OMIM IDRef(s)
Agammaglobulinemia, X-Linked; XLA 300755 J:52228