Phenotypes Associated with This Genotype

Genotype
MGI:3605029

• Allelic Composition: Abcc6^tm1Jfk/Abcc6^tm1Jfk
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

vision/eye

calcified retina ( J:101372 )

cardiovascular system

calcified artery ( J:101372 )

renal/urinary system

nephrocalcinosis ( J:101372 )

integument

abnormal vibrissa follicle morphology ( J:101372 )

• the capsule surrounding the vibrissae shows progressive mineralization of collagen fibrils and elastic fibers starting around 5 weeks of age

calcified skin ( J:101372 )

homeostasis/metabolism

calcinosis ( J:101372 )

• profound patchy mineralization of a number of tissues including the capsule surrounding the sinuses of vibrissae, medium sized arteries, the skin, retina, kidney, and interscapular brown fat is seen at 428 to 454 days of age; however no mineralization is seen in the lung or liver and serum calcium, phosphorus and protein levels are normal

• the degree of calcification progressively increases in homozygotes at 1.5, 6, and 22 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pseudoxanthoma elasticum		DOID:2738	OMIM:177850 OMIM:264800	J:101372