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Phenotypes Associated with This Genotype
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
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phenotype observed in females
phenotype observed in males
N normal phenotype

Thinner and abnormal elastic lamellae in the ascending aorta of Elntm1Dyl/Eln+ mice

cardiovascular system
• elastic lamellae are thinner and increased in number in arteries
• elastic lamellae in the aorta are about 50% thinner
• 5% and 25% increase in elastic lamellae in the descending and ascending aorta, respectively
• 35% increase in smooth muscle and elastic lamellae in arteries
• although at physiologic pressures, aortae have normal extensibility, at 125 mmHg and above, aortic extensibility is reduced

• 35% increase in smooth muscle and elastic lamellae in arteries

Mouse Models of Human Disease
OMIM ID Ref(s)
Supravalvular Aortic Stenosis; SVAS 185500 J:51109

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory