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

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

Fractures of the long bones

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

Availability

Mouse Genotype

Col1a1^m1Btlr/Col1a1^m1Btlr

Col1a1^Mov13/Col1a1^Mov13

Col1a1^tm1Jae/Col1a1^tm1Jae

Col1a1^Aga2/Col1a1⁺

Col1a1^M1Jrt/Col1a1⁺

Col1a1^Mov13/Col1a1⁺

Col1a1^tm1.1Jcm/Col1a1⁺

Col1a1^tm1Jcm/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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