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Symbol
Name
ID
Col1a1
collagen, type I, alpha 1
MGI:88467
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Contracture of the proximal interphalangeal joint of the 2nd finger
Contracture of the proximal interphalangeal joint of the 3rd finger
Flexion contracture
Hypotonia
Generalized hypotonia
Muscle weakness
Disease(s) Associated with COL1A1
beta thalassemia
Ehlers-Danlos syndrome arthrochalasia type 1
osteogenesis imperfecta

Mouse Phenotypes
abnormal myocardium layer morphology
myocardium hypertrophy
heart right ventricle hypertrophy
decreased ventricle muscle contractility
abnormal tendon collagen fibril morphology
decreased tendon stiffness
Availability Mouse Genotype
Col1a1Aga2/Col1a1+
Col1a1M1Jrt/Col1a1+

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
03/12/2024
MGI 6.23
The Jackson Laboratory