Analysis Tools
mortality/aging
|
• all die by 8 weeks of age
|
cellular
|
• in MEFs, nuclei appear elongated or irregular with loss of B-type lamins from 1 pole, slight clustering of nuclear pore complexes, and loss of emerin from the nuclear envelope into the cytoplasm
• in MEFs and hepatocytes, patchy thinning or loss of heterochromatin from the nuclear face of the inner nuclear membrane is seen and these regions also lack identifiable nuclear pore complexes
• the nuclear envelope is more easily fragmented during isolation
|
|
• in MEFs, nuclei appear elongated or irregular
|
growth/size/body
|
• at 4 weeks, mean body weight is about 50% of wild-type and heterozygous littermates
|
|
• growth retardation is seen by 2-3 weeks of age and growth ceases by 4 weeks of age
|
muscle
|
• muscles surrounding the femur and perivertebral muscles are dystrophic while cardiac muscle is variably affected with ventricular muscle more severely impaired; however, muscles in the head, tongue and diaphragm are relatively normal
• muscle fibers are variably affected with those closer to the bone being more severely impaired
• no elevation of serum creatine kinase levels are detected
|
|
• in the heart, some ventricular myocytes show signs of degeneration often associated with patchy mineralization
|
behavior/neurological
|
• at 3-4 weeks mice have reduced grip strength
|
abnormal gait
(
J:58702
)
|
• at 3-4 weeks mice display a stiff walking posture with splayed hind legs
|
skeleton
|
• progressive kyphoscoliosis starting around 3-4 weeks of age
|
adipose tissue
|
• absence of white fat
|
nervous system
|
• sciatic nerve axon density is reduced, axon diameter is increased, and nonmyelinated axons are present
|
|
• sciatic nerve axon density is reduced, axon diameter is increased, and nonmyelinated axons are presen
|
|
• nonmyelinated axons are present in the sciatic nerve
|
immune system
|
• probably secondary to physiological stress
|
small spleen
(
J:58702
)
|
• probably secondary to physiological stress
|
hematopoietic system
|
• probably secondary to physiological stress
|
small spleen
(
J:58702
)
|
• probably secondary to physiological stress
|
endocrine/exocrine glands
|
• probably secondary to physiological stress
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Charcot-Marie-Tooth disease type 2B1 | DOID:0110156 |
OMIM:605588 |
J:75378 | |
| dilated cardiomyopathy 1A | DOID:0110425 |
OMIM:115200 |
J:87613 , J:131905 | |
| Emery-Dreifuss muscular dystrophy | DOID:11726 |
OMIM:PS310300 |
J:58702 | |
