B6J;B6N-Ptenem1Bvan/H
| Status | Available to order |
| EMMA ID | EM:14917 |
| International strain name | B6J;B6N-Ptenem1Bvan/H |
| Alternative name | Pten-R173C |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Ptenem1Bvan |
| Gene/Transgene symbol | Pten |
Information from provider
| Provider | Bart Vanhaesebroeck |
| Provider affiliation | Oncology, Cancer Institute |
| Genetic information | The strain has a point mutation in the Pten gene. R173C is a hotspot mutation in cancer in the PTEN tumour suppressor gene. To generate the R173 mouse strain, gRNAs were designed to introduce R173C mutation along with a silent mutation that introduces an EcoNI site. The gRNAs along with Cas9 protein was injected into C57BL/6N zygotes. The zygotes were then transferred into pseudo-pregnant mothers. DNA from the litters born (founder animals) was used to PCR the region around R173 followed by restriction analysis with EcoNI. The animals positive for EcoNI digestion were further tested to determine the degree of mosaicism. The PCR product was subcloned and 12 subclones were sequenced for each founder. Sperm from males carrying the mutation were used for IVF and F1 animals were subsequently obtained which carried a heterozygous R173C mutation (+/R173C). |
| Phenotypic information | Homozygous:R173C/R173C (homozygous) embryos die in utero.Heterozygous:PTEN +/R173C (heterozygous) mice have macrocephaly and cultured +/R173C neurons have a slight increase in dendritic complexity and in line with these results we found moderate increases in pAkt levels. Mice also develop enlarged lymph nodes at 10 months and males at 18 months. Breeding is also affected after 4 months of age. |
| Breeding history | Backcrossed from original C57BL/6N to C57BL/6J strain background. |
| References | None available |
| Homozygous fertile | no |
| Homozygous viable | no |
| 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
- Squamous cell carcinoma of salivary glands / Orphanet_500481
- Squamous cell carcinoma of the oral cavity / Orphanet_502363
- Squamous cell carcinoma of the larynx / Orphanet_494550
- Squamous cell carcinoma of the oropharynx / Orphanet_500478
- Squamous cell carcinoma of the nasal cavity and paranasal sinuses / Orphanet_500464
- Squamous cell carcinoma of the hypopharynx / Orphanet_494547
- Squamous cell carcinoma of the lip / Orphanet_502366
- Activated PI3K-delta syndrome / Orphanet_397596
- Lhermitte-Duclos disease / Orphanet_65285
- Cowden syndrome / Orphanet_201
- Bannayan-Riley-Ruvalcaba syndrome / Orphanet_109
- Macrocephaly-intellectual disability-autism syndrome / Orphanet_210548
- Proteus-like syndrome / Orphanet_2969
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome / Orphanet_137608
- Proteus syndrome / Orphanet_744
- Bilateral frontoparietal polymicrogyria / Orphanet_101070