About   Help   FAQ
Symbol
Name
ID
Col1a1
collagen, type I, alpha 1
MGI:88467
Phenotype annotations related to skeleton
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Dentinogenesis imperfecta
Frontal bossing
Micrognathia
Decreased calvarial ossification
Absent ossification of calvaria
Platybasia
Wormian bones
Wide anterior fontanel
Large fontanelles
Calvarial hyperostosis
Basilar impression
Femoral bowing
Femoral bowing present at birth, straightening with time
Tibial bowing
Protrusio acetabuli
Broad long bones
Crumpled long bones
Periosteal thickening of long tubular bones
Slender long bone
Abnormality of pelvic girdle bone morphology
Abnormality of the thorax
Beaded ribs
Biconcave vertebral bodies
Biconcave flattened vertebrae
Platyspondyly
Kyphosis
Scoliosis
Reduced bone mineral density
Osteoporosis
Severe generalized osteoporosis
Cortical irregularity
Joint hypermobility
Increased susceptibility to fractures
Bowing of limbs due to multiple fractures
Multiple prenatal fractures
Recurrent fractures
Disease(s) Associated with COL1A1
Caffey disease
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 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
kyphoscoliosis
kyphosis
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 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
Availability Mouse Genotype
Col1a1m1Btlr/Col1a1m1Btlr
Col1a1Mov13/Col1a1Mov13
Col1a1tm1Jae/Col1a1tm1Jae *
Col1a1Aga2/Col1a1+
Col1a1M1Jrt/Col1a1+
Col1a1Mov13/Col1a1+
Col1a1tm1.1Jcm/Col1a1+
Col1a1tm1Jcm/Col1a1+

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/11/2018
MGI 6.13
The Jackson Laboratory