Mouse Genome Informatics
hm
    Enpp1asj/Enpp1asj
C57BL/6J-Enpp1asj/GrsrJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
skeleton
• arthritis found in the spine at 12 weeks of age
• osteoarthritis found in many joints and joints are very stiff and unbendable at 7 months of age
• severe osteomyelitis of the joints and unusual synovial cysts found at 13 weeks of age
• dilated joint spaces and hyperplastic synovium in the knees and elbows found at 11 weeks of age (J:174912)
• stiffening of the joints is seen by around 2 months of age, particularly the forepaws (J:201689)
• on an 'acceleration diet' rich in phosphorus and low in magnesium, mutants show accelerated stiffening of the joints and hobbling gait (J:201689)

hearing/vestibular/ear
• auditory brainstem response shows moderate to severe hearing loss by 3 months of age

immune system
• arthritis found in the spine at 12 weeks of age
• osteoarthritis found in many joints and joints are very stiff and unbendable at 7 months of age
• severe osteomyelitis of the joints and unusual synovial cysts found at 13 weeks of age

integument
• mice from mothers on the acceleration diet during pregnancy exhibit extensive mineralization in the dermal sheath of vibrissae as early as 4 weeks of age and shows progression with age, showing a 17.7-fold increase in mineral content of the muzzle skin containing vibrissae
• on a normal diet, mutants exhibit less mineralization in the dermal sheath of vibrissae
• mineralization of the capsule of the follicles of the vibrissae is found at 7 months of age
• mice from mothers on the acceleration diet during pregnancy and fed the same diet exhibit extensive mineralization in the dermal sheath of vibrissae as early as 4 weeks of age which progresses with age

behavior/neurological
• by 2 months of age homozygotes have a stiff posture with the front legs held in toward the body
• slow, hobbling gait beginning at around 2 months of age due to joint disease (J:174912)
• on an 'acceleration diet'rich in phosphorus and low in magnesium, mutants show accelerated stiffening of the joints and hobbling gait (J:201689)

cardiovascular system
• mice from mothers on the acceleration diet during pregnancy and also fed this diet exhibit extensive mineralization in the coronary arteries
• mice from mothers on the acceleration diet during pregnancy and also fed this diet exhibit extensive mineralization in the aorta
• mice from mothers on the acceleration diet during pregnancy and also fed this diet exhibit extensive mineralization in the carotid arteries
• mice from mothers on the acceleration diet during pregnancy and also fed this diet show calcification of the carotid and coronary arteries
• seen in mice from mothers on the acceleration diet during pregnancy and also fed this diet
• mice from mothers on the acceleration diet during pregnancy and also fed this diet exhibit mineralized blood vessels in the liver, but no mineralization in the liver parenchyma

homeostasis/metabolism
• mice from mothers on the acceleration diet during pregnancy exhibit extensive mineralization in the dermal sheath of vibrissae as early as 4 weeks of age and progresses with age, showing a 17.7-fold increase in mineral content of the muzzle skin containing vibrissae
• at 7 weeks of age, mice on the acceleration diet show severe mineralization in the muzzle area, showing calcium and phosphorus in a 2:1 ratio, similar to that in endochondral bone and the presence of hydroxyapatite
• mice from mothers on the acceleration diet during pregnancy exhibit extensive mineralization in the aorta, the coronary and carotid arteries, the retina, the blood vessels of the liver, and in the kidneys
• on a normal diet, mutants exhibit less mineralization in the dermal sheath of vibrissae
• on a normal diet, vascular mineralization is not seen until around 5 months of age compared to 4 weeks of age on the acceleration diet

liver/biliary system
• mice from mothers on the acceleration diet during pregnancy and also fed this diet exhibit mineralized blood vessels in the liver, but no mineralization in the liver parenchyma

mortality/aging
• pups from mothers on the acceleration diet during pregnancy and the placed on the same diet at weaning exhibit reduced lifespan, with more than 50% of mice dying spontaneously before the age of 6 weeks and only 4 of 28 mice surviving to 12 weeks of age
• however, mice show normal lifespan on a normal diet

renal/urinary system
• mice from mothers on the acceleration diet during pregnancy and also fed this diet exhibit extensive mineralization in the kidneys, affecting primarily the medullary tubules and arcuate and renal arteries

vision/eye
• mice from mothers on the acceleration diet during pregnancy and also fed this diet exhibit extensive mineralization in the retina
• seen in mice from mothers on the acceleration diet during pregnancy and also fed this diet

Mouse Models of Human Disease
OMIM IDRef(s)
Arterial Calcification, Generalized, of Infancy, 1; GACI1 208000 J:201689