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Phenotypes Associated with This Genotype
Genotype
MGI:3042186
Allelic
Composition
Lamp2tm1Psa/Lamp2tm1Psa
Genetic
Background
either: (involves: 129P2/OlaHsd * 129/Sv * C57BL/6J) or (involves: 129P2/OlaHsd * 129/Sv)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lamp2tm1Psa mutation (0 available); any Lamp2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• approximately 50% of mutant mice died between P20 and P40, independent of sex and genetic background
• mice that died early (4 weeks) often displayed stenoses or segmental haemorrhagic infarction of the small intestine as well as pancreatic lesions

cardiovascular system
• mutant mice had a significantly increased ratio of heart weight (blotted dry) to body weight
• the contractile developed force at a stimulation frequency of 4 Hz was 2.5-fold lower in heart muscle preparations from mutant mice than in those from controls; the contractile dysfunction was further pronounced at 10 Hz

cellular
• mutant mice accumulated autophagic vacuoles in the liver, kidney, pancreas and cardiac and skeletal muscle; the exocrine pancreas exhibited the highest degree of autophagic lesions
• hepatocytes showed large clusters of smaller autophagic vacuoles containing cytosol, endoplasmic reticulum, sparse glycogen and mitochondria
• in skeletal and cardiac muscle, vacuoles were filled with polymorphic contents; accumulation of vacuoles appeared to be more severe in mice that died early, and was associated with fiber degeneration, fiber splitting and ring fibers in skeletal muscle

growth/size/body
• mutant mice had a significantly increased ratio of heart weight (blotted dry) to body weight
• mutant mice were smaller and weighed less than wild-type: the weight difference was maximal (35-45%) between P20 and P30; at >60 days, the weight difference was 10-15%

hematopoietic system
• the mutant thymus displayed increased apoptotic cell loss
• the mutant spleen showed defects in the demarcation of white and red pulp

homeostasis/metabolism
• the blood serum levels of glucagon and amino acids were within the range of controls except for glutamine, which was increased, and arginine, which was decreased, relative to wild-type
• serum arginine normalized under an arginine-rich diet; however, the accumulation of autophagic vacuoles in liver and pancreas was not reversed, indicating that autophagy was not induced by low levels of arginine

immune system
• the mutant thymus displayed increased apoptotic cell loss
• the mutant spleen showed defects in the demarcation of white and red pulp

muscle
• the contractile developed force at a stimulation frequency of 4 Hz was 2.5-fold lower in heart muscle preparations from mutant mice than in those from controls; the contractile dysfunction was further pronounced at 10 Hz

reproductive system
• homozygous null females were fertile; however, the mean litter size was reduced to 4 or 5 animals, compared with 6 or 7 in control mice

endocrine/exocrine glands
• the mutant thymus displayed increased apoptotic cell loss

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Danon disease DOID:0050437 OMIM:300257
J:64151


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory