Phenotypes Associated with This Genotype

Genotype
MGI:3615174

• Allelic Composition: Abcc6^tm1Aabb/Abcc6^tm1Aabb
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

cardiovascular system

calcified artery ( J:105062 )

• cortex of kidney particularly affected

• first seen in kidneys at 6 months of age

• occurs spontaneously

• calcium deposits in walls of medium sized arteries with deposition along elastic fibers

• in smaller vessels, calcium deposits sometimes protrude into lumen

abnormal kidney vasculature morphology ( J:105062 )

• calcium deposits appear in arteries of the renal cortex starting around 6 months of age

renal/urinary system

abnormal kidney vasculature morphology ( J:105062 )

• calcium deposits appear in arteries of the renal cortex starting around 6 months of age

vision/eye

abnormal Bruch membrane morphology ( J:105062 )

• calcification seen in old age

• electron dense fibers with an electron lucent core

homeostasis/metabolism

increased circulating creatinine level ( J:105062 )

• at both 8 and 11 months of age

decreased circulating HDL cholesterol level ( J:105062 )

• at both 8 and 11 months of age

integument

calcified skin ( J:105062 )

• sparse calcified blood vessels

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pseudoxanthoma elasticum		DOID:2738	OMIM:177850 OMIM:264800	J:105062