Summary |
|
||||||||||
Mutation origin |
|
||||||||||
Mutation description |
|
||||||||||
Phenotypes |
![]()
View phenotypes and curated references for all genotypes (concatenated display).
|
||||||||||
Disease models |
![]() |
||||||||||
Expression |
|
||||||||||
Find Mice (IMSR) |
|
||||||||||
Notes |
Note: Homozygous mutant mice may serve as an animal model of Bethlem myopathy. The functional deficit of the locomotor system is very limited in the mouse, where the myopathy is apparently asymptomatic. A major difference between the human and the mouse pathologies is the location of lesions: extensor muscles of limbs in Bethlem myopathy and diaphragm and auxiliary respiratory muscles in mice. |
||||||||||
References |
|
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 04/16/2024 MGI 6.23 |
![]() |
|