IMPC phenotypes (allele matching)
- increased total body fat amount / IMPC
C57BL/6N-Epas1em1(IMPC)Wtsi/WtsiOulu
| Status | Available to order |
| EMMA ID | EM:14461 |
| 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