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Phenotypes Associated with This Genotype
Genotype
MGI:3605029
Allelic
Composition
Abcc6tm1Jfk/Abcc6tm1Jfk
Genetic
Background
involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcc6tm1Jfk mutation (1 available); any Abcc6 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye

cardiovascular system

renal/urinary system

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

homeostasis/metabolism
• 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


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