About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3712734
Allelic
Composition
Arsbtm1Cptr/Arsbtm1Cptr
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arsbtm1Cptr mutation (0 available); any Arsb mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• 4- to 15-fold increase of glycosaminoglycan content in tissues of 6-month-old mice (J:102290)
• 4- to 15-fold increase of glycosaminoglycan content in tissues of 6-month-old mice (J:102290)

cardiovascular system
• heart valves show considerable thickening (J:102290)
• heart valves show considerable thickening (J:102290)
• mitral valve thickening is detected by echocardiography in 4 of 10 mutants (J:102290)
• mitral valve thickening is detected by echocardiography in 4 of 10 mutants (J:102290)
• leaflets shows an enlargement of cells that contain vacuoles and a higher cell number (J:102290)
• leaflets shows an enlargement of cells that contain vacuoles and a higher cell number (J:102290)
• the cardiac output is almost half of wild-type (J:102290)
• the cardiac output is almost half of wild-type (J:102290)
• fractional shortening of the myocardium is reduced to about 2/3 of wild-type (J:102290)
• the left ventricular diameter at the end of systole is enlarged while the left ventricular diameter at the end of diastole is not changed (J:102290)
• fractional shortening of the myocardium is reduced to about 2/3 of wild-type (J:102290)
• the left ventricular diameter at the end of systole is enlarged while the left ventricular diameter at the end of diastole is not changed (J:102290)
• 2 of the 4 mutants with mitral valve thickening show mitral regurgitation (J:102290)
• 2 of the 4 mutants with mitral valve thickening show mitral regurgitation (J:102290)
• the systolic and diastolic functional properties of hearts are severely impaired (J:102290)
• significantly lower velocity of blood flow and reduction in pressure gradients across the aortic and mitral valves (J:102290)
• impaired diastolic properties are shown by a reduction of the Vmax of the mitral E-wave of 38% representing the impaired diastolic filling of the left ventricle (J:102290)
• the systolic and diastolic functional properties of hearts are severely impaired (J:102290)
• significantly lower velocity of blood flow and reduction in pressure gradients across the aortic and mitral valves (J:102290)
• impaired diastolic properties are shown by a reduction of the Vmax of the mitral E-wave of 38% representing the impaired diastolic filling of the left ventricle (J:102290)

vision/eye
• exhibit corneal alterations that range from mild disarrangement of fibrils to severe stromal disarray with large fissures (J:102290)
• however, homozygotes do not develop corneal clouding as is frequently observed in MPS VI patients (J:102290)
• exhibit corneal alterations that range from mild disarrangement of fibrils to severe stromal disarray with large fissures (J:102290)
• however, homozygotes do not develop corneal clouding as is frequently observed in MPS VI patients (J:102290)
• in most cases, corneal epithelium shows reduced thickness and loss of the typical cell alignment (J:102290)
• in most cases, corneal epithelium shows reduced thickness and loss of the typical cell alignment (J:102290)

muscle
• fractional shortening of the myocardium is reduced to about 2/3 of wild-type (J:102290)
• the left ventricular diameter at the end of systole is enlarged while the left ventricular diameter at the end of diastole is not changed (J:102290)
• fractional shortening of the myocardium is reduced to about 2/3 of wild-type (J:102290)
• the left ventricular diameter at the end of systole is enlarged while the left ventricular diameter at the end of diastole is not changed (J:102290)

Mouse Models of Human Disease
OMIM ID Ref(s)
Mucopolysaccharidosis Type VI; MPS6 253200 J:102290


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory