Phenotypes for Mgp MGI:2183282 MGI Mouse

premature death ( J:38867 )

• homozygotes develop to term but die by 2 months of age from rupture and subsequent hemorrhage of the thoracic and abdominal aorta

abnormal aorta tunica media morphology ( J:38867 )

• at 2 and 3 weeks of age, homozygotes show extensive calcification of the elastic lamellae in the media of the aortic wall as well as disrupted tissue architecture

• affected aortae exhibit cartilaginous metaplasia, typified by the presence of chondrocytes and metachromatic cartilage matrix

• in the media, chondrocytes are surrounded by hyaline cartilage and type II collagen fibrils, proteoglycans and matrix vesicles

abnormal aorta elastic fiber morphology ( J:38867 )

• affected aortae exhibit extensive calcification of elastic fibers and collagen fibrils in the media of the aortic wall

• the inorganic material found in elastic lamellae is identified as apatite

abnormal aorta smooth muscle morphology ( J:38867 )

• in affected aortae, smooth muscle cells fail to retain their spatial arrangement as discrete, contiguous layers throughout the vessel wall

calcified artery ( J:38867 )

• at 2 and 3 weeks of age, homozygotes show widespread calcification along the aorta and its branches as well as in the coronary arteries; no calcification is detected up to 1 week of age

• calcification originates at several sites and involves all elastic and muscular arteries, but not arterioles, capillaries or veins

• however, no fatty streaks or atherosclerotic plaques are observed in affected arteries

calcified aorta ( J:38867 )

• at 2 and 3 weeks of age, homozygotes show widespread calcification along the aorta and its branches

abnormal kidney vasculature morphology ( J:176031 )

• kidneys are more vascularized than controls

• renal vasculature exhibits excessive branching of small vessels, irregular caliber of arteries, and evidence of arteriovenous malformations

• kidney vessels are enlarged

• some mutants exhibit enlarged niduses and entangled vessels in the kidneys

abnormal glomerular capillary morphology ( J:176031 )

• total capillary density and the number of capillaries with a diameter of more than 20 um is increased in glomeruli

abnormal lung vasculature morphology ( J:176031 )

• pulmonary vasculature exhibits excessive branching of small vessels, irregular caliber of arteries, and evidence of arteriovenous malformations

• lung vessels are enlarged

• some mutants exhibit enlarged niduses and entangled vessels in the lungs

arteriovenous malformation ( J:176031 )

• mutants exhibit pulmonary and renal arteriovenous malformations

• presence of renal and pulmonary arteriovenous shunts

• mutants exhibit abnormal arteriovenous connections in the glomeruli, direct connections between an arterial segment and a venous segment are seen on the surface of the lungs and both afferent and efferent arterioles are seen in the kidneys

pulmonary arteriovenous malformation ( J:176031 )

• mutants exhibit pulmonary arteriovenous malformations and shunts

calcified aortic valve ( J:38867 )

• at 2 and 3 weeks of age, homozygotes exhibit calcification in coronary arteries and aortic valves but not in the myocardium

internal hemorrhage ( J:38867 )

• homozygotes die from rupture and subsequent hemorrhage of the thoracic and abdominal aorta

increased heart rate ( J:38867 )

• beginning at 2 weeks of age, homozygotes display a significantly faster heart rate than wild-type mice

decreased body height ( J:38867 )

• starting at 2 weeks of age, homozygotes exhibit a shorter stature relative to wild-type mice

• at death, homozygotes are noticeably shorter than wild-type mice

postnatal growth retardation ( J:38867 )

• homozygotes exhibit a normal body size up to 2-3 weeks of age, but grow slowly thereafter

increased kidney weight ( J:176031 )

• kidneys are heavier when normalized to total body weight

abnormal tracheal cartilage morphology ( J:38867 )

• homozygotes display inappropriate calcification of cartilage in the lower end of the trachea

abnormal long bone epiphyseal plate morphology ( J:38867 )

• at 8 weeks, homozygotes display inappropriate calcification of the growth-plate cartilage

abnormal long bone epiphyseal plate proliferative zone ( J:38867 )

• at 8 weeks, calcification of the growth plate abnormally extends into the zone of proliferating chondrocytes

• mutant proliferating chondrocytes are not organized in columns as in wild-type growth plate

decreased width of hypertrophic chondrocyte zone ( J:38867 )

• abnormal calcification of the growth plate cartilage results in the absence of hypertrophic chondorcytes

decreased bone mineral density ( J:38867 )

• abnormal calcification of the growth-plate cartilage leads to osteopenia and fractures

abnormal lung morphology ( J:176031 )

• mutants exhibit a paucity of terminal airways

abnormal lung vasculature morphology ( J:176031 )

• pulmonary vasculature exhibits excessive branching of small vessels, irregular caliber of arteries, and evidence of arteriovenous malformations

• lung vessels are enlarged

• some mutants exhibit enlarged niduses and entangled vessels in the lungs

small lung ( J:176031 )

• lungs are slightly smaller

abnormal bronchial cartilage morphology ( J:38867 )

• homozygotes display inappropriate calcification of cartilage in the main bronchi