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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
targeted mutation 4b, Wellcome Trust Sanger Institute
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
Adamts19tm4b(EUCOMM)Wtsi/Adamts19tm4b(EUCOMM)Wtsi B6N(Cg)-Adamts19tm4b(EUCOMM)Wtsi MGI:6437232

Cell Lines MEPD1003_3_C02
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adamts19tm4b(EUCOMM)Wtsi mutation (0 available); any Adamts19 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• mice exhibit progressive aortic valve dysfunction characterized by regurgitation and/or aortic stenosis
• at 3 weeks of age, 36% of mice show increased KLF2 expression in the endothelial cells, suggesting increased shear stress in the endothelial layer of aortic valves
• at 6 months of age, cellular features of diseased valves are consistent with a change toward a secretory valvular interstitial cell (VIC) phenotype
• however, no calcification is observed up to 9 months of age
• partial fusion at the annulus of the aortic valve leaflets shows increased collagen deposition at the hinges covering the raphe
• dysfunctional aortic valves exhibit thickened commissures
• dysfunctional aortic valves have a reduced opening, occasionally in a 'fish mouth' pattern with only two visible leaflets, resembling a functional fused bicuspid aortic valve (BAV)-like phenotype
• aortic valves appear denser with localized accumulation of melanocyte clusters in the leaflets; the extracellular matrix (ECM) appears disorganized throughout the leaflets
• in the hinge regions, valves show smaller collagen type I fibers, cells reminiscent of osteoblasts and increased cellular debris
• at 3 months of age, 38% of mice show aortic valve regurgitation and/or severe aortic stenosis
• at 6 months of age, aortic valves tend to be thicker with cellular debris, small bundles of collagen fibers and abundant proteoglycans, esp. at the leaflet tip
• aortic valves are significantly thickened by 9 months
• aortic valves are thickened at the hinge regions of the leaflets
• at 3 months of age, ~20% of mice show abnormal blood flow in systole and increased systolic aortic pressure
• aortic peak pressures are significantly increased at 6 and 9 months of age
• at 3 months of age, 27% of mice show aortic regurgitation in diastole; 38% of mice show aortic valve regurgitation and/or severe aortic stenosis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
aortic valve disease DOID:62 J:287334

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
MGI 6.22
The Jackson Laboratory