|
Symbol Name ID |
Fkrp
fukutin related protein MGI:2447586 |
| Darker colors indicate more annotations |
| Human Phenotypes | Weakness of facial musculature |
Facial palsy |
Macroglossia |
Achilles tendon contracture |
Calf muscle hypertrophy |
Thigh hypertrophy |
Shoulder girdle muscle weakness |
Limb-girdle muscular dystrophy |
Shoulder girdle muscle atrophy |
Pelvic girdle muscle weakness |
Elbow contracture |
Hypotonia |
Generalized hypotonia |
Neonatal hypotonia |
Severe muscular hypotonia |
EMG: myopathic abnormalities |
Difficulty climbing stairs |
Difficulty running |
Difficulty walking |
Frequent falls |
Muscle spasm |
Muscle weakness |
Generalized muscle weakness |
Poor head control |
Proximal muscle weakness |
Myotonia |
Reduced muscle fiber alpha dystroglycan |
Reduced muscle fiber merosin |
Central core regions in muscle fibers |
Skeletal muscle atrophy |
Proximal amyotrophy |
Muscular dystrophy |
Myopathy |
| Disease(s) Associated with FKRP | |||||||||||||||||||||||||||||||||
| autosomal recessive limb-girdle muscular dystrophy type 2I | |||||||||||||||||||||||||||||||||
| congenital muscular dystrophy-dystroglycanopathy type A5 | |||||||||||||||||||||||||||||||||
| muscular dystrophy | |||||||||||||||||||||||||||||||||
| muscular dystrophy-dystroglycanopathy type B5 |
| Mouse Phenotypes | skeletal muscle fiber necrosis |
myositis |
abnormal extensor digitorum longus morphology |
abnormal tibialis anterior morphology |
abnormal skeletal muscle fiber morphology |
increased skeletal muscle fiber size |
increased skeletal muscle fiber diameter |
increased variability of skeletal muscle fiber size |
centrally nucleated skeletal muscle fibers |
decreased skeletal muscle fiber number |
skeletal muscle fiber degeneration |
abnormal skeletal muscle fiber type ratio |
skeletal muscle fibrosis |
dystrophic muscle |
muscle degeneration |
muscle weakness |
myopathy |
|
| Availability | Mouse Genotype | |||||||||||||||||
| Fkrptm1.1Pg/Fkrptm1.1Pg | ||||||||||||||||||
| Fkrptm1Itl/Fkrptm1Itl | ||||||||||||||||||
| Fkrptm1Scbr/Fkrptm1Scbr | ||||||||||||||||||
| Fkrptvrm53/Fkrptvrm53 | ||||||||||||||||||
| Fkrptm1.1Pg/Fkrptm1.2Pg | ||||||||||||||||||
| Fkrptm1Scbr/Fkrptm1Scbr Sox1tm1(cre)Take/Sox1+ (conditional) |
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 05/21/2024 MGI 6.23 |
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