Symbol Name ID |
Col1a1
collagen, type I, alpha 1 MGI:88467 |
Darker colors indicate more annotations |
Human Phenotypes | Abnormal skull morphology |
Frontal bossing |
Prominent occiput |
Brachycephaly |
Calvarial hyperostosis |
Decreased calvarial ossification |
Absent ossification of calvaria |
Platybasia |
Micrognathia |
Malar flattening |
Basilar impression |
Basilar invagination |
Decreased skull ossification |
Macrocephaly |
Relative macrocephaly |
Delayed closure of the anterior fontanelle |
Wormian bones |
Wide anterior fontanel |
Large fontanelles |
Triangular face |
Midface retrusion |
Gingival recession |
Severe periodontitis |
Abnormality of the dentition |
Abnormal dental root morphology |
Short dental root |
Fragile teeth |
Selective tooth agenesis |
Delayed eruption of teeth |
Persistence of primary teeth |
Abnormal dental enamel morphology |
Dental enamel pits |
Hypocalcification of dental enamel |
Generalized hypoplasia of dental enamel |
Grayish enamel |
Abnormal dental pulp morphology |
Pulp obliteration |
Abnormal dentin morphology |
Dentinogenesis imperfecta |
Odontodysplasia |
Abnormality of dental color |
Yellow-brown discoloration of the teeth |
Carious teeth |
Periapical bone loss |
Premature loss of teeth |
Dental malocclusion |
Anterior open-bite malocclusion |
Convex nasal ridge |
Disease(s) Associated with COL1A1 | ||||||||||||||||||||||||||||||||||||||||||||||||
aggressive periodontitis | ||||||||||||||||||||||||||||||||||||||||||||||||
beta thalassemia | ||||||||||||||||||||||||||||||||||||||||||||||||
Caffey disease | ||||||||||||||||||||||||||||||||||||||||||||||||
dentinogenesis imperfecta | ||||||||||||||||||||||||||||||||||||||||||||||||
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 | abnormal cranium morphology |
abnormal neurocranium morphology |
thick neurocranium |
thin neurocranium |
abnormal dental pulp cavity morphology |
abnormal dentin mineralization |
abnormal maxilla morphology |
abnormal turbinate morphology |
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Availability | Mouse Genotype | ||||||||
Col1a1tm1Jae/Col1a1tm1Jae | |||||||||
Col1a1Aga2/Col1a1+ | |||||||||
Col1a1M1Jrt/Col1a1+ | |||||||||
Col1a1tm1.1Jcm/Col1a1+ | |||||||||
Col1a1tm1Jcm/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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