Mouse Genome Informatics
involves: 129S4/SvJae * C57BL/6
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Lipid inclusions with electron-dense concentric lamellar structures in the lysosomes of Glatm1Kul/Y renal tubular cells

renal/urinary system
• electron microscopy reveales concentric lamellar incusions within lysosomes of renal tubular cells (J:39394)
• marked accumulation of ceramidetrihexoside in the liver and kidneys (J:39394)
• mice otherwise appear healthy up to 10-14 weeks of age (J:39394)

liver/biliary system
• marked accumulation of ceramidetrihexoside in the liver and kidneys (J:39394)

• accumulation of material containing terminal alpha-galactosyl residues in cultured embryonic fibroblasts (J:39394)

cardiovascular system
• increase in the aortic diameter during diastole indicating ascending aortic dilation, however it is not associated with aortic valvular regurgitation (J:187258)
• heart weight is increased, when normalized to body weight or tibial weight (J:187258)
• increase in left ventricular mass at 4 months of age when normalized to body weight (J:187258)
• mutant males exhibit mild diastolic left ventricular dysfunction as indicated by a decrease in the maximal diastolic velocity of the mitral annulus, without change in the isovolumic relaxation time (J:187258)
• however, global left ventricular systolic function is similar to wild-type mice (J:187258)
• treatment with a single dose of agalsidase-beta, a type of enzyme replacement therapy, does not affect the left ventricular hypertrophy, function or heart rate, but improves the mRNA signals of early cardiac remodeling (J:187258)
• heart rate is slower in 4 month old males (J:187258)
• premature atrial contractions are more frequently observed in mutant males than in wild-type males (J:187258)
• males exhibit prolonged RR intervals (J:187258)
• however, no differences in PQ, QRS, or corrected QT intervals (J:187258)
• lower systolic blood pressure in males than in wild-type males (J:187258)
• mild hypertrophic cardiomyopathy (J:187258)

• mild hypertrophic cardiomyopathy (J:187258)

Mouse Models of Human Disease
Fabry Disease 301500 J:39394 , J:187258