Symbol Name ID |
Col1a2
collagen, type I, alpha 2 MGI:88468 |
Darker colors indicate more annotations |
Human Phenotypes | Rhizomelia |
Inguinal hernia |
Umbilical hernia |
Short stature |
Disproportionate short-limb short stature |
Neonatal short-limb short stature |
Small for gestational age |
Growth delay |
Intrauterine growth retardation |
Disease(s) Associated with COL1A2 | |||||||||
Ehlers-Danlos syndrome cardiac valvular type | |||||||||
osteogenesis imperfecta | |||||||||
osteogenesis imperfecta type 2 | |||||||||
osteogenesis imperfecta type 3 | |||||||||
osteogenesis imperfecta type 4 |
Mouse Phenotypes | increased heart weight |
enlarged heart |
decreased body weight |
decreased body size |
enlarged spleen |
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Availability | Mouse Genotype | |||||
Col1a2oim/Col1a2oim | ||||||
Col1a2tm1b(EUCOMM)Wtsi/Col1a2tm1b(EUCOMM)Wtsi | ||||||
Col1a2tm1.1Mcbr/Col1a2+ |
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 04/23/2024 MGI 6.23 |
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