Analysis Tools|
Allele Symbol Allele Name Allele ID |
Sox1+ wild type MGI:2155615 |
||||||||||||||||||||||||
| Summary |
5 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• poor health results in sacrifice at around 27 weeks of age
|
|
• individual muscle fibers are occasionally surrounded by moderate to large amounts of compact, fibrous connective tissue and infiltrates of fat with some muscle fibers mineralized
|
|
• mice surviving to 30 weeks exhibit hypertrophy of muscle fibers
|
|
• presence of large calcium deposits in muscle
|
|
• mice display more severe muscle phenotype than Fkrptm1Scbr Sox1tm1(cre)Take mice
• variation in fiber size, centrally nucleated muscle fibers and increases in the number of split fibers at 12 weeks of age
• pronounced expansion of the interstitium with small to moderate amounts of variably mature fibroadipose tissue and substantial inflammation in the interstitium and necrotic muscle fibers comprised of neutrophils, macrophages, and lesser numbers of lymphocytes and plasma cells
|
|
• muscle shows a reduction in resistance to eccentric contraction-induced injury (isometric force in the last contraction) relative to controls
|
|
• substantial inflammation in the interstitium and necrotic muscle fibers comprised of neutrophils, macrophages, and lesser numbers of lymphocytes and plasma cells
|
|
• partial collapse of the leg extensor reflex
|
|
• substantial inflammation in the interstitium and necrotic muscle fibers comprised of neutrophils, macrophages, and lesser numbers of lymphocytes and plasma cells
|
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 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 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
|
 |
• females, but not males, show a reduced body weight at 20 but not at 12 weeks of age
|
|
• 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
|
|
• macrophages, lymphocytes, and rare plasma cells infiltrate the interstitium and necrotic myofibers
|
|
• 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 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice are obtained in normal Mendelian ratios
|
| N |
• at E10.5, mice exhibit no enhancement of endothelial cells
|
| N |
• at E10.5, mice exhibit no enhancement of hematopoietic progenitor cells
|
| N |
• mice develop without phenotypic abnormalities during embryogenesis
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E9.5, head folds are asymmetric unlike in wild-type mice
|
|
• at E9.5
|
|
• at E9.5
|
|
• at E9.5, head folds are asymmetric unlike in wild-type mice
|
|
• at E9.5
|
|
• at E9.5
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 03/18/2025 MGI 6.24 |
|
|
|
||
