Analysis Tools
mortality/aging
|
• fewer than the expected numbers are seen when double heterozygotes are mated to single heterozygous Fkrp mutant mice
• high pre-weaning loss is seen when double heterozygotes are mated together
|
growth/size/body
 |
• females, but not males, show a reduced body weight at 20 but not at 12 weeks of age
|
muscle
|
• macrophages, lymphocytes, and rare plasma cells infiltrate the interstitium and necrotic myofibers
|
|
• mice develop a progressive muscular dystrophy
• by 6 weeks of age, occasional areas of small basophilic regenerating fibers and inflammatory infiltrates are see in gastrocnemius muscle
• by 12 weeks of age, the gastrocnemius and diaphragm show fiber degeneration characterized by sarcoplasmic hyalinization, loss of cross striations and sarcoplasmic fragmentation and groups of small, regenerative myofibers with large, centralized nuclei and a granular pale basophilic cytoplasm
• at 30 weeks, muscle fiber degeneration is attenuated and regeneration with clusters of basophilic regenerative fibers is occasionally evident together with rare, interstitial lymphoplasmacytic foci
• however, the soleus muscle shows only minimal damage even at 30 weeks of age
|
|
• gastrocnemius and diaphragm muscles show onset of fiber degeneration at around 6 weeks of age
|
immune system
|
• macrophages, lymphocytes, and rare plasma cells infiltrate the interstitium and necrotic myofibers
|
nervous system
hydrocephaly
(
J:207119
)
|
• when double heterozygotes are mated together, some homozygous Fkrp offspring exhibit hydrocephalus
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive limb-girdle muscular dystrophy type 2I | DOID:0110299 |
OMIM:607155 |
J:207119 | |
