Phenotypes Associated with This Genotype

Genotype
MGI:3712734

• Allelic Composition: Arsb^tm1Cptr/Arsb^tm1Cptr
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

abnormal cell morphology ( J:102290 )

• 4- to 15-fold increase of glycosaminoglycan content in tissues of 6-month-old mice

cardiovascular system

abnormal heart valve morphology ( J:102290 )

• heart valves show considerable thickening

thick mitral valve ( J:102290 )

• mitral valve thickening is detected by echocardiography in 4 of 10 mutants

heart valve hyperplasia ( J:102290 )

• leaflets shows an enlargement of cells that contain vacuoles and a higher cell number

decreased cardiac output ( J:102290 )

• the cardiac output is almost half of wild-type

decreased cardiac muscle contractility ( J:102290 )

• 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

decreased heart left ventricle muscle contractility ( J:102290 )

mitral valve regurgitation ( J:102290 )

• 2 of the 4 mutants with mitral valve thickening show mitral regurgitation

decreased systemic arterial blood pressure ( J:102290 )

• 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

abnormal cornea morphology ( J:102290 )

• 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

abnormal cornea epithelium morphology ( J:102290 )

• in most cases, corneal epithelium shows reduced thickness and loss of the typical cell alignment

decreased cornea epithelium thickness ( J:102290 )

disorganized cornea epithelium ( J:102290 )

muscle

decreased cardiac muscle contractility ( J:102290 )

• 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

decreased heart left ventricle muscle contractility ( J:102290 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis VI		DOID:12800	OMIM:253200	J:102290