- abnormal angiogenesis / MGI
- abnormal retinal vasculature morphology / MGI
- decreased body length / MGI
- decreased body weight / MGI
- polyphagia / MGI
- postnatal growth retardation / MGI
- increased circulating insulin level / MGI
- increased pancreatic beta cell number / MGI
- decreased lean body mass / MGI
- fetal growth retardation / MGI
- decreased skeletal muscle mass / MGI
- impaired glucose tolerance / MGI
- insulin resistance / MGI
- increased circulating leptin level / MGI
- increased fat cell size / MGI
- abnormal vascular development / MGI
- internal hemorrhage / MGI
- embryonic growth arrest / MGI
- embryonic growth retardation / MGI
- abnormal vitelline vascular remodeling / MGI
- abnormal dorsal aorta morphology / MGI
- embryonic lethality, complete penetrance / MGI
- abnormal intersomitic vessel morphology / MGI
- abnormal perineural vascular plexus morphology / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
B6.129P2-Pik3catm1Bvan/Orl
Status | Available to order |
EMMA ID | EM:11393 |
International strain name | B6.129P2-Pik3catm1Bvan/Orl |
Alternative name | B6.129P2-Pik3catm1(D933A)Bvan/J |
Strain type | Targeted Mutant Strains : Point mutation |
Allele/Transgene symbol | Pik3catm1Bvan |
Gene/Transgene symbol | Pik3ca |
Information from provider
Provider | Bart Vanhaesebroeck |
Provider affiliation | UCL Cancer Institute, University College London |
Additional owner | the University of Edinburgh |
Genetic information | Knock-in mice in which the endogenous Pik3ca/p110alpha PI3K gene is mutated so that it now encodes a p110alpha protein with (1) the D933A mutation in the ATP binding site, converting it to a kinase-dead p110alpha protein which is expressed at the same level as the wild-type p110alpha; (2) a C-terminal Myc-epitope tag. Backcrossed onto C57BL/6J background. |
Phenotypic information | Homozygous:Mice are lethal prenatally at E9.5, due to growth and angiogenesis defects.Heterozygous:Mice are around 15% smaller and have metabolic phenotypes. Mice show healthy aging in longevity experiments (PMID:23483710). |
Breeding history | Backcrossed onto C57BL/6J for more than 10 generations. |
References |
|
Homozygous fertile | not known |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Macrodactyly of toes, unilateral / Orphanet_295243
- Adult hepatocellular carcinoma / Orphanet_210159
- Hemimegalencephaly / Orphanet_99802
- Hemihyperplasia-multiple lipomatosis syndrome / Orphanet_276280
- Segmental progressive overgrowth syndrome with fibroadipose hyperplasia / Orphanet_314662
- CLOVES syndrome / Orphanet_140944
- Megalencephaly-capillary malformation-polymicrogyria syndrome / Orphanet_60040
- Macrodactyly of fingers, unilateral / Orphanet_295239
- Cowden syndrome / Orphanet_201
- Meningioma / Orphanet_2495
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- vasculature congestion / MGI
- abnormal vascular development / MGI
- abnormal angiogenesis / MGI
- decreased cell proliferation / MGI
- decreased body length / MGI
- decreased body weight / MGI
- polyphagia / MGI
- internal hemorrhage / MGI
- abnormal somite development / MGI
- decreased embryo size / MGI
- pale yolk sac / MGI
- embryonic growth arrest / MGI
- postnatal growth retardation / MGI
- abnormal lymphatic vessel morphology / MGI
- hemorrhage / MGI
- neoplasm / MGI
- increased circulating insulin level / MGI
- abnormal retinal vasculature morphology / MGI
- no phenotypic analysis / MGI
- abnormal vitelline vasculature morphology / MGI
- increased pancreatic beta cell number / MGI
- decreased lean body mass / MGI
- abnormal endocardium morphology / MGI
- embryonic growth retardation / MGI
- abnormal vitelline vascular remodeling / MGI
- fetal growth retardation / MGI
- decreased incidence of tumors by chemical induction / MGI
- abnormal anterior cardinal vein morphology / MGI
- abnormal dorsal aorta morphology / MGI
- decreased skeletal muscle mass / MGI
- abnormal brain vasculature morphology / MGI
- impaired glucose tolerance / MGI
- insulin resistance / MGI
- abnormal cell physiology / MGI
- increased circulating leptin level / MGI
- increased fat cell size / MGI
- abnormal lymphangiogenesis / MGI
- mortality/aging / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- chylous ascites / MGI
- abnormal intersomitic vessel morphology / MGI
- abnormal perineural vascular plexus morphology / MGI
Literature references
- Critical role for the p110alpha phosphoinositide-3-OH kinase in growth and metabolic regulation.;Foukas Lazaros C, Claret Marc, Pearce Wayne, Okkenhaug Klaus, Meek Stephen, Peskett Emma, Sancho Sara, Smith Andrew J H, Withers Dominic J, Vanhaesebroeck Bart, ;2006;Nature;441;366-70; 16625210
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