IMPC phenotypes (allele matching)
- increased total body fat amount / IMPC
C57BL/6N-Epas1em1(IMPC)Wtsi/WtsiOulu
| Status | Available to order |
| EMMA ID | EM:14461 |
| Citation information | RRID:IMSR_EM:14461 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6N-Epas1em1(IMPC)Wtsi/WtsiOulu |
| Alternative name | |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Epas1em1(IMPC)Wtsi |
| Gene/Transgene symbol | Epas1 |
Information from provider
| Provider | Wellcome Trust Sanger Institute |
| Provider affiliation | Wellcome Trust Sanger Institute |
| Genetic information | This mouse line originates from CRISPR zygote microinjection. For further details see the project page at the IMPC portal. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References | None available |
Information from EMMA
| Archiving centre | University of Oulu, Oulu, Finland |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Multiple paragangliomas associated with polycythemia / Orphanet_324299
- Sporadic pheochromocytoma/secreting paraganglioma / Orphanet_276621
- Autosomal dominant secondary polycythemia / Orphanet_247511
MGI phenotypes (gene matching)
- increased leukocyte cell number / MGI
- increased monocyte cell number / MGI
- abnormal angiogenesis / MGI
- abnormal lung development / MGI
- atelectasis / MGI
- thick pulmonary interalveolar septum / MGI
- abnormal cardiovascular system physiology / MGI
- cyanosis / MGI
- hemorrhage / MGI
- respiratory failure / MGI
- respiratory distress / MGI
- abnormal pulmonary alveolus epithelial cell morphology / MGI
- increased hematocrit / MGI
- increased heart weight / MGI
- thick ventricular wall / MGI
- increased erythrocyte cell number / MGI
- abnormal vitelline vasculature morphology / MGI
- abnormal physiological neovascularization / MGI
- abnormal retinal inner nuclear layer morphology / MGI
- abnormal lung vasculature morphology / MGI
- abnormal surfactant secretion / MGI
- increased spleen weight / MGI
- increased lymphocyte cell number / MGI
- decreased susceptibility to injury / MGI
- decreased heart rate / MGI
- abnormal eye electrophysiology / MGI
- increased hemoglobin content / MGI
- increased pulmonary respiratory rate / MGI
- decreased circulating noradrenaline level / MGI
- congestive heart failure / MGI
- decreased birth body size / MGI
- visceral vascular congestion / MGI
- liver vascular congestion / MGI
- heart vascular congestion / MGI
- pulmonary artery hypoplasia / MGI
- abnormal heart right ventricle pressure / MGI
- decreased type II pneumocyte number / MGI
- abnormal alveolar lamellar body morphology / MGI
- lethality, incomplete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- increased circulating erythropoietin level / MGI