C57BL/6-Pik3catm4Bvan/H
| Status | Available to order |
| EMMA ID | EM:13246 |
| International strain name | C57BL/6-Pik3catm4Bvan/H |
| Alternative name | PIK3Ca-H1047R conditional - Flp inducible |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Pik3catm4Bvan, |
| Gene/Transgene symbol | Pik3ca |
Information from provider
| Provider | Bart Vanhaesebroeck |
| Provider affiliation | University College London |
| Genetic information | Mouse 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 information | Homozygous:Mice are phenotypically normal.Heterozygous:Mice are phenotypically normal. |
| Breeding history | Backcrossed onto C57BL/6J for more than 10 generations. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
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
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