Mouse Genome Informatics
ot
    Glatm1Kul/Y
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
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
• marked accumulation of ceramidetrihexoside in the liver and kidneys
• mice otherwise appear healthy up to 10-14 weeks of age

liver/biliary system
• marked accumulation of ceramidetrihexoside in the liver and kidneys

cellular
• accumulation of material containing terminal alpha-galactosyl residues in cultured embryonic fibroblasts

cardiovascular system
• increase in the aortic diameter during diastole indicating ascending aortic dilation, however it is not associated with aortic valvular regurgitation
• heart weight is increased, when normalized to body weight or tibial weight
• increase in left ventricular mass at 4 months of age when normalized to body weight
• 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
• however, global left ventricular systolic function is similar to wild-type mice
• 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
• heart rate is slower in 4 month old males
• premature atrial contractions are more frequently observed in mutant males than in wild-type males
• males exhibit prolonged RR intervals
• however, no differences in PQ, QRS, or corrected QT intervals
• lower systolic blood pressure in males than in wild-type males
• mild hypertrophic cardiomyopathy

muscle
• mild hypertrophic cardiomyopathy

Mouse Models of Human Disease
OMIM IDRef(s)
Fabry Disease 301500 J:39394 , J:187258