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Symbol
Name
ID

Efemp2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2
MGI:1891209

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes	Flexion contracture	Congenital diaphragmatic hernia	Hypotonia	Generalized hypotonia	Hypoplasia of the diaphragm
Disease(s) Associated with EFEMP2	Flexion contracture	Congenital diaphragmatic hernia	Hypotonia	Generalized hypotonia	Hypoplasia of the diaphragm
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
Availability	Mouse Genotype	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
	Efemp2^tm1.1Chu/Efemp2^tm1.1Chu
	Efemp2^tm1.2Hiya/Efemp2^tm1.2Hiya
	Efemp2^tm1.2Tynk/Efemp2^tm1.2Tynk
	Efemp2^tm1Dgen/Efemp2^tm1Dgen
	Efemp2^tm1.1Hiya/Efemp2^tm1.2Hiya Tg(Tagln-cre)1Her/0 (conditional)
	Efemp2^tm1.1Tynk/Efemp2^tm1.2Tynk Tg(Tagln-cre)1Her/0 (conditional)

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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