B6J;B6N-Ptenem1Bvan/H

Status

Available to order

EMMA IDEM:14917
International strain nameB6J;B6N-Ptenem1Bvan/H
Alternative namePten-R173C
Strain typeEndonuclease-mediated
Allele/Transgene symbolPtenem1Bvan
Gene/Transgene symbolPten

Information from provider

ProviderBart Vanhaesebroeck
Provider affiliationOncology, Cancer Institute
Genetic informationThe 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 informationHomozygous:
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 historyBackcrossed from original C57BL/6N to C57BL/6J strain background.
ReferencesNone available
Homozygous fertileno
Homozygous viableno
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)
  • abnormal pericardium morphology / MGI
  • increased cell proliferation / MGI
  • megacephaly / MGI
  • prostate gland hyperplasia / MGI
  • abnormal thyroid gland morphology / MGI
  • lymphoid hyperplasia / MGI
  • enlarged spleen / MGI
  • enlarged thymus / MGI
  • abnormal olfactory bulb morphology / MGI
  • altered metastatic potential / MGI
  • abnormal brain development / MGI
  • open neural tube / MGI
  • wavy neural tube / MGI
  • abnormal uterus morphology / MGI
  • abnormal prostate gland morphology / MGI
  • prostate gland epithelial hyperplasia / MGI
  • abnormal prostate gland epithelium morphology / MGI
  • decreased body size / MGI
  • increased metastatic potential / MGI
  • abnormal social investigation / MGI
  • increased stereotypic behavior / MGI
  • impaired balance / MGI
  • abnormal embryo development / MGI
  • abnormal somite development / MGI
  • abnormal gastrulation / MGI
  • decreased embryo size / MGI
  • incomplete embryo turning / MGI
  • abnormal placenta morphology / MGI
  • abnormal allantois morphology / MGI
  • embryonic growth arrest / MGI
  • increased mammary adenocarcinoma incidence / MGI
  • increased malignant tumor incidence / MGI
  • abnormal tumor incidence / MGI
  • increased tumor incidence / MGI
  • increased T cell derived lymphoma incidence / MGI
  • increased leukemia incidence / MGI
  • increased adrenal gland tumor incidence / MGI
  • increased carcinoma incidence / MGI
  • increased pheochromocytoma incidence / MGI
  • premature death / MGI
  • abnormal developmental patterning / MGI
  • abnormal embryonic tissue morphology / MGI
  • increased brain weight / MGI
  • abnormal CNS synaptic transmission / MGI
  • abnormal seminiferous tubule morphology / MGI
  • abnormal lymph node B cell domain morphology / MGI
  • increased teratoma incidence / MGI
  • abnormal synaptic depression / MGI
  • increased hemangioma incidence / MGI
  • colon polyps / MGI
  • increased liver adenoma incidence / MGI
  • astrocytosis / MGI
  • kinked neural tube / MGI
  • increased thyroid adenoma incidence / MGI
  • abnormal microglial cell physiology / MGI
  • decreased aggression towards males / MGI
  • embryonic growth retardation / MGI
  • disorganized embryonic tissue / MGI
  • failure of initiation of embryo turning / MGI
  • cardia bifida / MGI
  • increased incidence of tumors by ionizing radiation induction / MGI
  • enlarged allantois / MGI
  • abnormal thyroid follicular cell morphology / MGI
  • increased endometrial carcinoma incidence / MGI
  • abnormal behavior / MGI
  • abnormal brain vasculature morphology / MGI
  • abnormal rostral-caudal axis patterning / MGI
  • increased brain size / MGI
  • abnormal cell physiology / MGI
  • increased mammary adenoacanthoma incidence / MGI
  • intestine polyps / MGI
  • lymph node hyperplasia / MGI
  • enlarged Peyer's patches / MGI
  • abnormal cerebral hemisphere morphology / MGI
  • embryonic lethality / MGI
  • enlarged cerebellum / MGI
  • endometrium hyperplasia / MGI
  • decreased prepulse inhibition / MGI
  • increased prostate intraepithelial neoplasia incidence / MGI
  • increased uterus carcinoma incidence / MGI
  • failure of chorioallantoic fusion / MGI
  • abnormal hippocampus granule cell morphology / MGI
  • abnormal hippocampus pyramidal cell morphology / MGI
  • abnormal cerebral cortex pyramidal cell morphology / MGI
  • increased oligodendrocyte number / MGI
  • increased gastrointestinal tumor incidence / MGI
  • increased mammary gland tumor incidence / MGI
  • increased stomach tumor incidence / MGI
  • increased hamartoma incidence / MGI
  • increased thyroid tumor incidence / MGI
  • increased thyroid carcinoma incidence / MGI
  • increased prostate gland tumor incidence / MGI
  • increased fibroadenoma incidence / MGI
  • embryonic lethality, complete penetrance / MGI
  • embryonic lethality between implantation and somite formation, complete penetrance / MGI
  • embryonic lethality during organogenesis, complete penetrance / MGI
  • prenatal lethality, incomplete penetrance / MGI
  • embryonic lethality during organogenesis, incomplete penetrance / MGI
  • increased astrocyte number / MGI
  • increased lymphoma incidence / MGI

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*
  • Tissue - Types of tissue, service fee and delivery time available upon request

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable), as well as a CRISPR surcharge.

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