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Symbol
Name
ID

Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
MGI:97370

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

Abnormal hip joint morphology

Abnormality of the knee

Abnormal calcification of the carpal bones

Stippled calcification of the elbow

Hypophosphatemic rickets

Myocardial calcification

Calcification of the aorta

Abdominal aortic calcification

Coronary artery calcification

Arterial calcification

Carotid artery calcification

Generalized arterial calcification

Medial calcification of large arteries

Medial calcification of medium-sized arteries

Hepatic calcification

Pancreatic calcification

Calcification of the auricular cartilage

Adrenal calcification

Ankylosis

Fused cervical vertebrae

Stippled calcification of the shoulder

Abnormality of the vertebral column

Increased bone mineral density

Osteomalacia

Ectopic ossification

Ectopic calcification

Cerebral calcification

Periarticular calcification

Disease(s) Associated with ENPP1

arterial calcification of infancy

ossification of the posterior longitudinal ligament of spine

Mouse Phenotypes

abnormal chondrocyte proliferation

abnormal osteoblast physiology

abnormal cranium morphology

abnormal round window morphology

incudomalleolar fusion

abnormal outer ear cartilage morphology

joint inflammation

osteoarthritis

osteomyelitis

abnormal hand joint morphology

fused carpal bones

abnormal forelimb joint morphology

abnormal elbow joint morphology

abnormal knee joint morphology

long tibia

abnormal caudal vertebrae morphology

calcified calcaneal tendon

calcified tendon

abnormal scapula morphology

abnormal axial skeleton morphology

abnormal rib morphology

abnormal thoracic cage shape

abnormal intervertebral disk morphology

abnormal nucleus pulposus morphology

calcified intervertebral disk

abnormal posterior longitudinal ligament morphology

abnormal spine curvature

lordosis

scoliosis

abnormal vertebrae morphology

fusion of vertebral bodies

vertebral fusion

decreased bone mineral content

decreased bone mineral density

abnormal trabecular bone morphology

decreased bone mass

osteoporosis

exostosis

abnormal cartilage development

abnormal chondrocyte morphology

abnormal enthesis morphology

abnormal joint morphology

calcified joint

fused joints

abnormal ligament morphology

abnormal skeleton physiology

abnormal bone mineralization

increased bone ossification

decreased joint mobility

Availability

Mouse Genotype

Enpp1^asj-2J/Enpp1^asj-2J

Enpp1^asj/Enpp1^asj

Enpp1^{em1(IMPC)Ccpcz}/Enpp1^{em1(IMPC)Ccpcz}

Enpp1^m1Amgn/Enpp1^m1Amgn

Enpp1^tm1Gdg/Enpp1^tm1Gdg

Enpp1^ttw-Ham/Enpp1^ttw-Ham

Enpp1^ttw/Enpp1^ttw

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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