Analysis Tools
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 | |
