Symbol Name ID |
Col1a1
collagen, type I, alpha 1 MGI:88467 |
Darker colors indicate more annotations |
Human Phenotypes | Rhizomelia |
Splenomegaly |
Hepatomegaly |
Inguinal hernia |
Umbilical hernia |
Growth abnormality |
Short stature |
Disproportionate short-limb short stature |
Neonatal short-limb short stature |
Mild short stature |
Small for gestational age |
Growth delay |
Intrauterine growth retardation |
Disease(s) Associated with COL1A1 | |||||||||||||
beta thalassemia | |||||||||||||
Ehlers-Danlos syndrome arthrochalasia type 1 | |||||||||||||
osteogenesis imperfecta | |||||||||||||
osteogenesis imperfecta type 1 | |||||||||||||
osteogenesis imperfecta type 2 | |||||||||||||
osteogenesis imperfecta type 3 | |||||||||||||
osteogenesis imperfecta type 4 |
Mouse Phenotypes | myocardium hypertrophy |
heart right ventricle hypertrophy |
abnormal dental pulp cavity morphology |
abnormal dentin mineralization |
abnormal turbinate morphology |
decreased body weight |
abnormal chest morphology |
decreased body length |
decreased body size |
thin body |
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Availability | Mouse Genotype | ||||||||||
Col1a1m1Btlr/Col1a1m1Btlr | |||||||||||
Col1a1tm1Jae/Col1a1tm1Jae | |||||||||||
Col1a1Aga2/Col1a1+ | |||||||||||
Col1a1M1Jrt/Col1a1+ | |||||||||||
Col1a1tm1.1Jcm/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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