C57BL/6-Pik3catm4Bvan/H

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EMMA IDEM:13246
Citation informationRRID:IMSR_EM:13246 

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International strain nameC57BL/6-Pik3catm4Bvan/H
Alternative namePIK3Ca-H1047R conditional - Flp inducible
Strain typeTargeted Mutant Strains : Conditional mutation
Allele/Transgene symbolPik3catm4Bvan
Gene/Transgene symbolPik3ca

Information from provider

ProviderBart Vanhaesebroeck
Provider affiliationUniversity College London
Genetic informationMouse line in which one of the two wild-type Pik3ca alleles is converted to the conditional, Flp recombinase-inducible Pik3ca H1047R allele. Genomic DNA covering the last 6 exons of the coding region of Pik3ca was isolated and a point mutation, resulting in conversion of CAT (H) to CGT (R) in the C-terminal p110 alpha kinase domain, was introduced by site-directed mutagenesis. In addition, a neo selection cassette flanked by frt sites was inserted into exons 19 and 20 in the targeting vector using standard restriction enzyme and PCR-based cloning techniques.
Phenotypic informationHomozygous:
Mice are phenotypically normal.

Heterozygous:
Mice are phenotypically normal.
Breeding historyBackcrossed onto C57BL/6J for more than 10 generations.
References
  • Oncogenic PIK3CA induces centrosome amplification and tolerance to genome doubling.;Berenjeno Inma M, Piñeiro Roberto, Castillo Sandra D, Pearce Wayne, McGranahan Nicholas, Dewhurst Sally M, Meniel Valerie, Birkbak Nicolai J, Lau Evelyn, Sansregret Laurent, Morelli Daniele, Kanu Nnennaya, Srinivas Shankar, Graupera Mariona, Parker Victoria E R, Montgomery Karen G, Moniz Larissa S, Scudamore Cheryl L, Phillips Wayne A, Semple Robert K, Clarke Alan, Swanton Charles, Vanhaesebroeck Bart, ;2017;Nature communications;8;1773; 29170395
Homozygous fertileno
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisednot known

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene 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

  • Oncogenic PIK3CA induces centrosome amplification and tolerance to genome doubling.;Berenjeno Inma M, Piñeiro Roberto, Castillo Sandra D, Pearce Wayne, McGranahan Nicholas, Dewhurst Sally M, Meniel Valerie, Birkbak Nicolai J, Lau Evelyn, Sansregret Laurent, Morelli Daniele, Kanu Nnennaya, Srinivas Shankar, Graupera Mariona, Parker Victoria E R, Montgomery Karen G, Moniz Larissa S, Scudamore Cheryl L, Phillips Wayne A, Semple Robert K, Clarke Alan, Swanton Charles, Vanhaesebroeck Bart, ;2017;Nature communications;8;1773; 29170395

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