Symbol Name ID |
Efemp2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2 MGI:1891209 |
Darker colors indicate more annotations |
Human Phenotypes | Flexion contracture |
Congenital diaphragmatic hernia |
Hypotonia |
Generalized hypotonia |
Hypoplasia of the diaphragm |
Disease(s) Associated with EFEMP2 | |||||
arterial tortuosity syndrome | |||||
autosomal recessive cutis laxa type IB |
Mouse Phenotypes | abnormal aorta smooth muscle morphology |
abnormal vascular smooth muscle morphology |
vascular smooth muscle hyperplasia |
heart left ventricle hypertrophy |
abnormal vascular smooth muscle physiology |
increased vascular smooth muscle cell proliferation |
abnormal hypodermis muscle layer morphology |
diaphragmatic hernia |
abnormal tendon collagen fibril morphology |
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Availability | Mouse Genotype | |||||||||
Efemp2tm1.1Chu/Efemp2tm1.1Chu | ||||||||||
Efemp2tm1.2Hiya/Efemp2tm1.2Hiya | ||||||||||
Efemp2tm1.2Tynk/Efemp2tm1.2Tynk | ||||||||||
Efemp2tm1Dgen/Efemp2tm1Dgen | ||||||||||
Efemp2tm1.1Hiya/Efemp2tm1.2Hiya Tg(Tagln-cre)1Her/0 (conditional) |
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Efemp2tm1.1Tynk/Efemp2tm1.2Tynk Tg(Tagln-cre)1Her/0 (conditional) |
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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last database update 08/02/2024 MGI 6.24 |
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