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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
MGI:97370
123 phenotypes from 7 alleles in 8 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Enpp1asj-2J/Enpp1+
BALB/cJ-Enpp1asj-2J/GrsrJ 		calcinosis J:215824
nephrocalcinosis J:215824
Enpp1asj-2J/Enpp1asj-2J
BALB/cJ-Enpp1asj-2J/GrsrJ 		abnormal calcium ion homeostasis J:215824
abnormal circulating calcium level J:215824
abnormal circulating mineral level J:215824
abnormal circulating phosphate level J:215824
abnormal gait J:215824
abnormal joint morphology J:215824
abnormal posture J:215824
abnormal vibrissa follicle morphology J:215824
calcified aorta J:215824
calcified joint J:215824
calcified skin J:215824
calcinosis J:215824
decreased circulating phosphate level J:215824
decreased joint mobility J:215824
hunched posture J:215824
nephrocalcinosis J:215824
scoliosis J:215824
Enpp1asj/Enpp1+
C57BL/6J-Enpp1asj/GrsrJ 		abnormal renal artery morphology J:201689
decreased circulating phosphate level J:201689
Enpp1asj/Enpp1asj
C57BL/6J-Enpp1asj/GrsrJ 		abnormal aorta morphology J:201689
abnormal auditory tube morphology J:251638
abnormal carotid artery morphology J:201689
abnormal coronary artery morphology J:201689
abnormal elbow joint morphology J:174912
abnormal gait J:174912, J:201689
abnormal kidney arcuate artery morphology J:201689
abnormal kidney morphology J:201689
abnormal knee joint morphology J:174912
abnormal liver vasculature morphology J:201689
abnormal middle ear morphology J:251638
abnormal mineral level J:201689
abnormal resting posture J:174912
abnormal retina morphology J:201689
abnormal round window morphology J:251638
abnormal skin adnexa morphology J:201689
abnormal snout skin morphology J:252837
abnormal stapedial artery morphology J:251638
abnormal tympanic membrane morphology J:251638
abnormal vibrissa follicle morphology J:174912
calcified aorta J:201689
calcified artery J:201689
calcified retina J:201689
calcified skin J:201689, J:252837
calcinosis J:215824, J:252837
conductive hearing loss J:251638
decreased circulating phosphate level J:201689
decreased joint mobility J:201689
impaired hearing J:174912
increased middle ear goblet cell number J:251638
increased or absent threshold for auditory brainstem response J:251638
increased susceptibility to induced morbidity/mortality J:201689
increased susceptibility to otitis media J:251638
incudomalleolar fusion J:251638
joint inflammation J:174912
middle ear effusion J:251638
middle ear polyps J:251638
osteoarthritis J:174912
osteomyelitis J:174912
tympanic membrane retraction J:251638
Enpp1em1(IMPC)Ccpcz/Enpp1em1(IMPC)Ccpcz
C57BL/6NCrl-Enpp1em1(IMPC)Ccpcz/Ccpcz 		abnormal cranium morphology J:211773
abnormal gait J:211773
abnormal heart morphology J:211773
abnormal joint morphology J:211773
abnormal mammary gland morphology J:211773
abnormal rib morphology J:211773
abnormal scapula morphology J:211773
abnormal sinus arrhythmia J:211773
abnormal skin coloration J:211773
abnormal spine curvature J:211773
abnormal spleen morphology J:211773
abnormal startle reflex J:211773
abnormal thoracic cage shape J:211773
abnormal thymus morphology J:211773
abnormal vertebrae morphology J:211773
cardiovascular system phenotype J:211773
decreased body weight J:211773
decreased exploration in new environment J:211773
decreased heart rate J:211773
enlarged heart J:211773
enlarged spleen J:211773
female infertility J:211773
increased airway resistance J:211773
increased freezing behavior J:211773
long tibia J:211773
lordosis J:211773
male infertility J:211773
prolonged RR interval J:211773
small thymus J:211773
vertebral fusion J:211773
Enpp1m1Amgn/Enpp1m1Amgn
involves: C3H/HeSnJ * C57BL/6J * Swiss 		abnormal gait J:168664
abnormal joint morphology J:168664
abnormal knee joint morphology J:168664
abnormal spinal cord morphology J:168664
calcified aorta J:168664
calcified artery J:168664
calcified calcaneal tendon J:168664
calcified joint J:168664
calcified tendon J:168664
decreased bone mass J:168664
decreased bone mineral content J:168664
decreased bone mineral density J:168664
decreased joint mobility J:168664
exostosis J:168664
Enpp1tm1Gdg/Enpp1tm1Gdg
involves: 129S1/Sv 		abnormal adipose tissue morphology J:133011
abnormal osteoblast physiology J:111462
abnormal trabecular bone morphology J:111462
calcified calcaneal tendon J:111462
calcified intervertebral disk J:111462
fused joints J:111462
increased bone ossification J:111462
Enpp1tm1Gdg/Enpp1tm1Gdg
involves: 129S1/Sv * C57BL/6 		abnormal cartilage development J:110028
abnormal motor capabilities/coordination/movement J:78590
abnormal vascular smooth muscle morphology J:110028
calcified aorta J:110028
decreased skin turgor J:78590
fused joints J:78590
Enpp1ttw-Ham/Enpp1ttw-Ham
Jcl:ICR-Enpp1ttw-Ham 		abnormal forelimb joint morphology J:250073
abnormal hair follicle morphology J:250073
abnormal hand joint morphology J:250073
abnormal joint morphology J:250073
abnormal ligament morphology J:250073
abnormal nucleus pulposus morphology J:250073
abnormal outer ear cartilage morphology J:250073
abnormal posterior longitudinal ligament morphology J:250073
abnormal spinal cord morphology J:250073
abnormal vibrissa morphology J:250073
decreased abdominal adipose tissue amount J:250073
decreased food intake J:250073
decreased white fat cell size J:250073
fused carpal bones J:250073
fused joints J:250073
fusion of vertebral bodies J:250073
premature death J:250073
vertebral fusion J:250073
weight loss J:250073
Enpp1ttw/Enpp1ttw
involves: ICR 		abnormal axial skeleton morphology J:19124, J:37369
abnormal bone mineralization J:37369, J:43357
abnormal chondrocyte morphology J:19124
abnormal chondrocyte proliferation J:37369
abnormal enthesis morphology J:43357
abnormal gait J:37369
abnormal grip strength J:19124
abnormal intervertebral disk morphology J:19124, J:37369, J:43357
abnormal joint morphology J:19124, J:37369
abnormal ligament morphology J:19124
abnormal posterior longitudinal ligament morphology J:43357
abnormal skeleton physiology J:43357
abnormal vertebrae morphology J:19124, J:43357
calcified aorta J:37369
calcified calcaneal tendon J:37369
calcified intervertebral disk J:37369
calcified joint J:19124, J:37369
calcinosis J:37369
decreased body weight J:43357
decreased circulating phosphate level J:43357
normal homeostasis/metabolism phenotype J:19124
increased alkaline phosphatase activity J:43357
osteoarthritis J:19124, J:37369
osteoporosis J:37369
postnatal growth retardation J:37369
premature death J:37369
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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12/10/2024
MGI 6.24 		The Jackson Laboratory