Symbol Name ID |
Col1a1
collagen, type I, alpha 1 MGI:88467 |
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 heart left ventricle muscle contractility |
abnormal tendon collagen fibril morphology |
decreased tendon stiffness |
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Availability | Mouse Genotype | ||||||
Col1a1Aga2/Col1a1+ | |||||||
Col1a1M1Jrt/Col1a1+ |
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 08/02/2024 MGI 6.24 |
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