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Symbol Name ID |
Fktn
fukutin MGI:2179507 |
| Darker colors indicate more annotations |
| Human Phenotypes | Facial palsy |
Camptodactyly of finger |
Flexion contracture of finger |
Ankle flexion contracture |
Abnormal calf musculature morphology |
Calf muscle hypertrophy |
Quadriceps muscle atrophy |
Distal lower limb muscle weakness |
Peroneal muscle weakness |
Scapular muscle atrophy |
Scapular winging |
Shoulder girdle muscle weakness |
Proximal muscle weakness in upper limbs |
Upper limb amyotrophy |
Proximal muscle weakness in lower limbs |
Limb-girdle muscular dystrophy |
Pelvic girdle muscle weakness |
Elbow flexion contracture |
Wrist flexion contracture |
Flexion contracture |
Hamstring contractures |
Hypotonia |
Generalized hypotonia |
EMG abnormality |
EMG: axonal abnormality |
EMG: myopathic abnormalities |
EMG: myotonic runs |
EMG: neuropathic changes |
Frequent falls |
Muscle weakness |
Generalized muscle weakness |
Progressive muscle weakness |
Proximal muscle weakness |
Gowers sign |
Myotonia |
Pelvic girdle muscle atrophy |
Abnormal muscle fiber morphology |
Hypoglycosylation of alpha-dystroglycan |
Internally nucleated skeletal muscle fibers |
Increased variability in muscle fiber diameter |
Central core regions in muscle fibers |
Increased endomysial connective tissue |
Muscle fiber atrophy |
Muscle fiber splitting |
Skeletal muscle atrophy |
Lower limb amyotrophy |
Skeletal muscle hypertrophy |
Fatty replacement of skeletal muscle |
Muscular dystrophy |
Myopathy |
| Disease(s) Associated with FKTN | ||||||||||||||||||||||||||||||||||||||||||||||||||
| autosomal recessive limb-girdle muscular dystrophy type 2L | ||||||||||||||||||||||||||||||||||||||||||||||||||
| autosomal recessive limb-girdle muscular dystrophy type 2M | ||||||||||||||||||||||||||||||||||||||||||||||||||
| dilated cardiomyopathy 1X | ||||||||||||||||||||||||||||||||||||||||||||||||||
| Fukuyama congenital muscular dystrophy | ||||||||||||||||||||||||||||||||||||||||||||||||||
| muscular dystrophy | ||||||||||||||||||||||||||||||||||||||||||||||||||
| muscular dystrophy-dystroglycanopathy type B4 |
| Mouse Phenotypes | skeletal muscle necrosis |
abnormal muscle precursor cell morphology |
increased collagen deposition in the muscles |
abnormal skeletal muscle fiber morphology |
increased variability of skeletal muscle fiber size |
centrally nucleated skeletal muscle fibers |
decreased skeletal muscle weight |
skeletal muscle atrophy |
decreased satellite cell number |
skeletal muscle fibrosis |
dystrophic muscle |
abnormal muscle precursor cell physiology |
impaired skeletal muscle regeneration |
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| Availability | Mouse Genotype | |||||||||||||
| Fktntm1Kcam/Fktntm1Kcam Tg(CAG-cre/Esr1*)5Amc/? (conditional) |
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| Fktntm1Kcam/Fktntm1Kcam Tg(Ckmm-cre)5Khn/? (conditional) |
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| Fktntm1Kcam/Fktntm1Kcam Myf5tm3(cre)Sor/Myf5+ (conditional) |
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| Fktntm3.1Ttd/Fktntm3.1Ttd Myf5tm3(cre)Sor/Myf5+ (conditional) |
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| Fktntm3.1Ttd/Fktntm3.1Ttd Tg(Ckmm-cre)5Khn/0 (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 04/23/2024 MGI 6.23 |
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