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 (10 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

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

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

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

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
05/17/2016
MGI 6.03
The Jackson Laboratory