Phenotypes Associated with This Genotype

Genotype
MGI:6259615

• Allelic Composition: Lamp2^tm1Psa/Lamp2^tm1Psa
• Genetic Background: involves: 129P2/OlaHsd

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

cardiovascular system

increased myocardial fiber size ( J:253728 )

♀

increased heart left ventricle wall thickness ( J:253728 )

♀ • increase in left ventricular wall thickness

abnormal cardiovascular system physiology ( J:253728 )

♀ • around 32 weeks of age, mice exhibit early signs of cardiac remodeling, however no decline in contractile functions is seen at this time

abnormal myocardial fiber physiology ( J:253728 )

♀ • 22 week old cardiomyocytes contain extensive clusters of autophagic vacuoles that are larger in size than in controls, indicating impaired autophagy

♀ • cardiomyocytes exhibit an increased number of mitochondria contained within double membrane autophagic vesicles and a greater degree of mitochondrial fragmentation, suggesting impaired clearance of damaged mitochondria

♀ • cardiomyocytes exhibit a decline in calcium transient amplitude and decreased sarcomere shortening across multiple pacing frequencies

cellular

abnormal mitochondrial morphology ( J:253728 )

♀ • cardiomyocytes show an increased frequency of abnormally swollen mitochondria and mitochondria with decreased cristae density

abnormal mitophagy ( J:253728 )

♀ • cardiomyocytes exhibit an increased number of mitochondria contained within double membrane autophagic vesicles and a greater degree of mitochondrial fragmentation, suggesting impaired clearance of damaged mitochondria

impaired autophagy ( J:253728 )

♀ • 22 week old cardiomyocytes contain extensive clusters of autophagic vacuoles that are larger in size than in controls, indicating impaired autophagy

abnormal cellular respiration ( J:253728 )

♀ • hearts exhibit reduced mitochondrial respiratory capacity

homeostasis/metabolism

abnormal mitophagy ( J:253728 )

♀ • cardiomyocytes exhibit an increased number of mitochondria contained within double membrane autophagic vesicles and a greater degree of mitochondrial fragmentation, suggesting impaired clearance of damaged mitochondria

impaired autophagy ( J:253728 )

♀ • 22 week old cardiomyocytes contain extensive clusters of autophagic vacuoles that are larger in size than in controls, indicating impaired autophagy

muscle

increased myocardial fiber size ( J:253728 )

♀

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Danon disease		DOID:0050437	OMIM:300257	J:253728