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Symbol
Name
ID
Col1a1
collagen, type I, alpha 1
MGI:88467
Phenotype annotations related to craniofacial
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
Availability Mouse Genotype
Col1a1tm1Jae/Col1a1tm1Jae
Col1a1Aga2/Col1a1+
Col1a1M1Jrt/Col1a1+
Col1a1tm1.1Jcm/Col1a1+
Col1a1tm1Jcm/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