|
Symbol Name ID |
Fhl1
four and a half LIM domains 1 MGI:1298387 |
| Darker colors indicate more annotations |
| Human Phenotypes | Camptodactyly of toe |
Achilles tendon contracture |
Scapular winging |
Joint contracture of the hand |
Flexion contracture |
Camptodactyly |
Hamstring contractures |
EMG: myopathic abnormalities |
Difficulty running |
Difficulty walking |
Frequent falls |
Poor head control |
Proximal muscle weakness |
Scapuloperoneal weakness |
Respiratory insufficiency due to muscle weakness |
Increased variability in muscle fiber diameter |
Muscle fiber intracytoplasmic reducing inclusion bodies |
Rimmed vacuoles |
Skeletal muscle atrophy |
Skeletal muscle hypertrophy |
| Disease(s) Associated with FHL1 | ||||||||||||||||||||
| reducing body myopathy 1A | ||||||||||||||||||||
| reducing body myopathy 1B | ||||||||||||||||||||
| Uruguay faciocardiomusculoskeletal syndrome | ||||||||||||||||||||
| X-linked Emery-Dreifuss muscular dystrophy 6 |
| Mouse Phenotypes | decreased skeletal muscle fiber diameter |
centrally nucleated skeletal muscle fibers |
myopathy |
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| Availability | Mouse Genotype | |||
| Fhl1tm1.1Mihi/Y | ||||
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 04/16/2024 MGI 6.23 |
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