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

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 corneal epithelium morphology ( J:102290 )

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

decreased corneal epithelium thickness ( J:102290 )

disorganized corneal 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

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