About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5767290
Allelic
Composition
Tg(Ckm-DNAJB6_ib*F93L)#Ccwe/0
Genetic
Background
B6.Cg-Tg(Ckm-DNAJB6_ib*F93L)#Ccwe
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 30% of mice die within the first 40 days due to profound muscle weakness

behavior/neurological
• mice are weaker in the inverted wire screen holding test and in the grip strength test

muscle
• alterations in myofibrillar organization, enlarged and swollen mitochondria and autophagic/lysosomal vacuoles
• large desmin inclusions in some myofibers
• muscle shows the presence of keratin 18 positive inclusions that colocalize with the mutant protein in the center of some muscle fibers
• accumulation of the RNA-binding proteins hnRNPA1 and hnRNPA2/B1as small puncta within the center of scattered myofibers, indicating inclusions
• alterations in expression and localization of Z-disc components and decreased organization
• levels of Z-disc proteins desmin, alpha-actinin, and syncolin are increased, while myotilin is unchanged and synemin is decreased
• mice develop progressive muscle weakness that is detectable at 2 months of age
• mice exhibit myopathic features with internal nuclei, variation in fiber size and increased endomysial connective tissue

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal dominant limb-girdle muscular dystrophy type 1E DOID:0110305 OMIM:603511
J:226488


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/09/2018
MGI 6.11
The Jackson Laboratory