C57BL/6N-Epas1tm1a(EUCOMM)Hmgu/H
Status | Available to order |
EMMA ID | EM:06875 |
International strain name | C57BL/6N-Epas1tm1a(EUCOMM)Hmgu/H |
Alternative name | HEPD0726_2_B11 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Epas1tm1a(EUCOMM)Hmgu |
Gene/Transgene symbol | Epas1 |
Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
Provider | MRC, Medical Research Council |
Provider affiliation | Mary Lyon Centre at MRC Harwell |
Genetic information | This mouse line originates from EUCOMM ES clone HEPD0726_2_B11. For further details on the construction of this clone see the page at the IMPC portal. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
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
- Multiple paragangliomas associated with polycythemia / Orphanet_324299
- Sporadic pheochromocytoma/secreting paraganglioma / Orphanet_276621
- Autosomal dominant secondary polycythemia / Orphanet_247511
IMPC phenotypes (gene matching)
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
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