Phenotypes Associated with This Genotype

Genotype
MGI:5607167

• Allelic Composition: Enpp1^asj-2J/Enpp1^asj-2J
• Genetic Background: BALB/cJ-Enpp1^asj-2J/GrsrJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal circulating mineral level ( J:215824 )

abnormal circulating calcium level ( J:215824 )

abnormal circulating phosphate level ( J:215824 )

decreased circulating phosphate level ( J:215824 )

• the serum/plasma concentrations of calcium and phosphate are normal, but the inorganic pyrophosphate is approximately 80% lower than normal resulting in a reduction of the PPi/Pi ratio from 4.2 to 0.88

abnormal calcium ion homeostasis ( J:215824 )

calcinosis ( J:215824 )

• extensive arterial mineralization is found by 3 months of age in the descending thoracic aorta, carotid artery, eyes, and a number of internal organs including the heart, spleen, lung, and kidney

• feeding a high phosphorous/low magnesium diet from 4 weeks of age until assessment at 12 weeks of age increases the calcium deposits throughout all of the affected tissues and additionally in the liver and this is more severe than the response to the same treatment in mice homozygous for the ages with stiffened joints allele, which was assessed on the C57BL/6J backgroud

skeleton

scoliosis ( J:215824 )

abnormal joint morphology ( J:215824 )

• progressive mineralization of the joints, especially in the front feet

calcified joint ( J:215824 )

decreased joint mobility ( J:215824 )

• stiffened joints due to increased minerization of the joints, most pronounced in the front feet

integument

abnormal vibrissa follicle morphology ( J:215824 )

• the dermal sheath of vibrissae are mineralized

calcified skin ( J:215824 )

• the muzzle skin,as well as the juxta-articular connective tissues, spinal and intercostal tissues, and various arteries, has extensive mineralization

cardiovascular system

calcified aorta ( J:215824 )

• extensive arterial mineralization is found by 3 months of age in the descending thoracic aorta, carotid artery, and a number of internal organs including the heart, spleen, lung, and kidney

renal/urinary system

nephrocalcinosis ( J:215824 )

behavior/neurological

abnormal posture ( J:215824 )

• the whole body appears stiffened by approximately 12 weeks of age, with stiffening of the front paws being the most pronounced

hunched posture ( J:215824 )

• by 8 weeks of age

abnormal gait ( J:215824 )

• slow, hobbling gait due to stiffened joints worsens with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
arterial calcification of infancy		DOID:0050644	OMIM:208000 OMIM:614473	J:215824