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Phenotypes Associated with This Genotype
Genotype
MGI:3615174
Allelic
Composition
Abcc6tm1Aabb/Abcc6tm1Aabb
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcc6tm1Aabb mutation (0 available); any Abcc6 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• occurs spontaneously
• cortex of kidney particularly affected
• first seen in kidneys at 6 months of age
• calcium deposits in walls of medium sized arteries with deposition along elastic fibers
• in smaller vessels, calcium deposits sometimes protrude into lumen
• calcium deposits appear in arteries of the renal cortex starting around 6 months of age

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

vision/eye
• calcification seen in old age
• electron dense fibers with an electron lucent core

homeostasis/metabolism
• at both 8 and 11 months of age
• at both 8 and 11 months of age

integument
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/31/2020
MGI 6.15
The Jackson Laboratory