Symbol Name ID |
Col1a1
collagen, type I, alpha 1 MGI:88467 |
* | Aspects of the system are reported to show a normal phenotype. |
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 |
Abnormal dental enamel morphology |
Dental enamel pits |
Hypocalcification of dental enamel |
Generalized hypoplasia of dental enamel |
Grayish enamel |
Dentinogenesis imperfecta |
Odontodysplasia |
Bowing of the long bones |
Bowing of the legs |
Femoral bowing |
Femoral bowing present at birth, straightening with time |
Genu valgum |
Tibial bowing |
Diaphyseal undertubulation |
Contracture of the proximal interphalangeal joint of the 2nd finger |
Contracture of the proximal interphalangeal joint of the 3rd finger |
Finger joint hypermobility |
Hallux valgus |
Abnormal femur morphology |
Abnormal tibia morphology |
Abnormal metaphysis morphology |
Dislocated radial head |
Protrusio acetabuli |
Congenital bilateral hip dislocation |
Knee joint hypermobility |
Congenital knee dislocation |
Limb undergrowth |
Micromelia |
Rhizomelia |
Flexion contracture |
Joint hypermobility |
Hyperextensibility at elbow |
Bone pain |
Increased susceptibility to fractures |
Bowing of limbs due to multiple fractures |
Multiple prenatal fractures |
Recurrent fractures |
Recurrent long bone fractures |
Abnormality of the skeletal system |
Abnormal long bone morphology |
Broad long bones |
Crumpled long bones |
Periosteal thickening of long tubular bones |
Slender long bone |
Abnormal pelvic girdle bone morphology |
Abnormal hip bone morphology |
Hip dysplasia |
Abnormal rib morphology |
Multiple rib fractures |
Thin ribs |
Bell-shaped thorax |
Pectus carinatum |
Pectus excavatum |
Thoracic hypoplasia |
Narrow chest |
Cervical kyphosis |
Kyphosis |
Scoliosis |
Abnormal form of the vertebral bodies |
Biconcave vertebral bodies |
Biconcave flattened vertebrae |
Platyspondyly |
Enlarged vertebral pedicles |
Vertebral compression fracture |
Reduced bone mineral density |
Osteopenia |
Osteoporosis |
Severe generalized osteoporosis |
Abnormal cortical bone morphology |
Cortical irregularity |
Subperiosteal bone formation |
Osteoarthritis |
Premature osteoarthritis |
Joint subluxation |
Hyperplastic callus formation |
Disease(s) Associated with COL1A1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
osteoporosis |
Mouse Phenotypes | skeleton phenotype |
increased osteocyte apoptosis |
increased osteoblast apoptosis |
abnormal osteoblast differentiation |
abnormal osteoblast physiology |
abnormal cranium morphology |
abnormal neurocranium morphology |
thick neurocranium |
thin neurocranium |
abnormal dental pulp cavity morphology |
abnormal dentin mineralization |
abnormal maxilla morphology |
abnormal turbinate morphology |
abnormal osteoclast physiology |
abnormal bone healing |
arthritis |
osteoarthritis |
abnormal olecranon morphology |
abnormal femur morphology |
decreased diameter of femur |
short femur |
abnormal fibula morphology |
abnormal tibia morphology |
abnormal limb bone morphology |
abnormal tendon collagen fibril morphology |
decreased tendon stiffness |
abnormal skeleton morphology |
abnormal long bone morphology |
decreased length of long bones |
abnormal pelvic girdle bone morphology |
abnormal ischium morphology |
abnormal pubis morphology |
abnormal rib morphology |
rib fractures |
thin ribs |
abnormal thoracic cage shape |
abnormal vertebral column morphology |
kyphosis |
kyphoscoliosis |
scoliosis |
abnormal vertebral body morphology |
short vertebral body |
abnormal bone collagen fibril morphology |
decreased bone mineral content |
decreased bone mineral density |
decreased trabecular bone volume |
decreased bone volume |
abnormal compact bone morphology |
abnormal compact bone lamellar structure |
decreased compact bone thickness |
abnormal osteoblast morphology |
increased osteoblast cell number |
abnormal osteocyte morphology |
abnormal osteocyte lacuna morphology |
abnormal trabecular bone morphology |
abnormal bone trabecula morphology |
decreased bone trabecula number |
decreased bone trabecular spacing |
increased bone trabecular spacing |
decreased trabecular bone thickness |
decreased bone mass |
osteopetrosis |
osteophytes |
atlanto-occipital joint dislocation |
abnormal bone mineralization |
decreased bone mineralization |
decreased bone ossification |
delayed bone ossification |
failure of bone resorption |
increased bone resorption |
decreased bone strength |
fragile skeleton |
joint contracture |
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Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Col1a1m1Btlr/Col1a1m1Btlr | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Col1a1Mov13/Col1a1Mov13 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Col1a1tm1Jae/Col1a1tm1Jae | * | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Col1a1Aga2/Col1a1+ | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Col1a1M1Jrt/Col1a1+ | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Col1a1Mov13/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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