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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Efemp2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
MGI:1891209
54 phenotypes from 6 alleles in 6 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Efemp2tm1.1Chu/Efemp2+
B6(SJL)-Efemp2tm1.1Chu 		increased aorta wall thickness J:223792
Efemp2tm1.1Chu/Efemp2tm1.1Chu
B6(SJL)-Efemp2tm1.1Chu 		abnormal aorta elastic tissue morphology J:223792
abnormal aorta smooth muscle morphology J:223792
abnormal ascending aorta morphology J:223792
abnormal cutaneous collagen fibril morphology J:223792
abnormal cutaneous elastic fiber morphology J:223792
abnormal descending aorta morphology J:223792
abnormal forelimb morphology J:223792
abnormal hypodermis muscle layer morphology J:223792
abnormal tendon collagen fibril morphology J:223792
alopecia J:223792
ascending aorta aneurysm J:223792
blepharoptosis J:223792
dilated aorta bulb J:223792
enlarged heart J:223792
focal dorsal hair loss J:223792
increased aorta wall thickness J:223792
increased artery tortuosity J:223792
increased carotid artery tortuosity J:223792
loose skin J:223792
overexpanded pulmonary alveolus J:223792
respiratory distress J:223792
thin dermal layer J:223792
wheezing J:223792
Efemp2tm1.1Hiya/Efemp2tm1.2Hiya
Tg(Tagln-cre)1Her/0
involves: 129S6/SvEvTac * C57BL/6 * SJL 		abnormal aorta elastic fiber morphology J:170883
abnormal aorta smooth muscle morphology J:213282
abnormal aorta tunica media morphology J:170883
abnormal aorta wall morphology J:213282
abnormal ascending aorta morphology J:170883, J:213282
abnormal blood vessel physiology J:213282
abnormal vascular smooth muscle morphology J:170883
ascending aorta aneurysm J:170883, J:213282
decreased systemic arterial diastolic blood pressure J:213282
dilated ascending aorta J:213282
increased pulse pressure J:213282
premature death J:170883
Efemp2tm1.1Hiya/Efemp2tm1.2Hiya
Tg(Tek-cre)1Ywa/0
involves: 129S6/SvEvTac * C57BL/6 * SJL 		no abnormal phenotype detected J:170883
Efemp2tm1.1Tynk/Efemp2tm1.1Tynk
Tg(Tagln-cre)1Her/0
involves: C57BL/6 * SJL 		abnormal aorta elastic tissue morphology J:154659
abnormal blood vessel physiology J:154659
Efemp2tm1.1Tynk/Efemp2tm1.2Tynk
Tg(Tagln-cre)1Her/0
involves: 129P2/OlaHsd * C57BL/6 * SJL 		abnormal aorta elastic tissue morphology J:154659
abnormal aortic arch morphology J:154659
abnormal blood vessel physiology J:154659
aortic valve regurgitation J:154659
ascending aorta aneurysm J:154659
dilated ascending aorta J:154659
heart left ventricle hypertrophy J:154659
Efemp2tm1.2Hiya/Efemp2tm1.2Hiya
involves: 129S6/SvEvTac * C57BL/6 * SJL 		abnormal aorta elastic fiber morphology J:170883
abnormal aorta tunica media morphology J:170883
abnormal vascular smooth muscle morphology J:170883
abnormal vascular smooth muscle physiology J:170883
ascending aorta aneurysm J:170883
increased vascular endothelial cell apoptosis J:170883
increased vascular endothelial cell proliferation J:170883
increased vascular smooth muscle cell proliferation J:170883
perinatal lethality, complete penetrance J:170883
vascular smooth muscle hyperplasia J:170883
Efemp2tm1.2Tynk/Efemp2tm1.2Tynk
involves: C57BL/6 		abnormal aorta elastic tissue morphology J:154659
abnormal aorta morphology J:154659
diaphragmatic hernia J:154659
neonatal lethality, complete penetrance J:154659
Efemp2tm1Dgen/Efemp2+
involves: 129P2/OlaHsd * C57BL/6 		abnormal aorta tunica media morphology J:129341
no abnormal phenotype detected J:101679
Efemp2tm1Dgen/Efemp2tm1Dgen
involves: 129P2/OlaHsd * C57BL/6 		abnormal aorta elastic tissue morphology J:106902, J:154659
abnormal aorta morphology J:106902
abnormal aorta smooth muscle morphology J:106902
abnormal aorta wall morphology J:106902
abnormal artery morphology J:106902
abnormal hypodermis morphology J:106902
abnormal pulmonary elastic fiber morphology J:106902
aneurysm J:154659
artery stenosis J:106902
descending aorta stenosis J:106902
embryonic lethality during organogenesis, complete penetrance J:101679
emphysema J:106902
hemorrhage J:106902
increased aorta wall thickness J:106902
perinatal lethality, complete penetrance J:106902
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/19/2024
MGI 6.24 		The Jackson Laboratory