Symbol Name ID |
Mybpc1
myosin binding protein C, slow-type MGI:1336213 |
Darker colors indicate more annotations |
Human Phenotypes | Foot joint contracture |
Scapular winging |
Joint contracture of the hand |
Flexion contracture |
Arthrogryposis multiplex congenita |
Distal arthrogryposis |
Camptodactyly |
Multiple joint contractures |
EMG: myopathic abnormalities |
Axial muscle weakness |
Distal muscle weakness |
Proximal muscle weakness |
Skeletal muscle atrophy |
Disease(s) Associated with MYBPC1 | |||||||||||||
congenital myopathy 16 | |||||||||||||
distal arthrogryposis type 1B | |||||||||||||
lethal congenital contracture syndrome 4 |
Mouse Phenotypes | abnormal sarcomere morphology |
decreased skeletal muscle mass |
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Availability | Mouse Genotype | ||
Mybpc1em1Lbmc/Mybpc1+ |
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 04/09/2024 MGI 6.23 |
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