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Symbol
Name
ID
Mybpc1
myosin binding protein C, slow-type
MGI:1336213
Phenotype annotations related to muscle
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
Availability Mouse Genotype
Mybpc1em1Lbmc/Mybpc1+

Contributing Projects:
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
The Jackson Laboratory