Symbol
Name
ID

Col2a1
collagen, type II, alpha 1
MGI:88452

Phenotype annotations related to skeleton

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Frontal bossing

Brachycephaly

Micrognathia

Microretrognathia

Trismus

Hypoplasia of the maxilla

Malar flattening

Decreased cranial base ossification

Macrocephaly

Abnormal dental enamel morphology

Short neck

Stiff neck

Abnormal diaphysis morphology

Bowing of the long bones

Radial bowing

Genu valgum

Genu varum

Tibial bowing

Short distal phalanx of the 2nd finger

Short distal phalanx of the 3rd finger

Short distal phalanx of the 4th finger

Short distal phalanx of the 5th finger

Short distal phalanx of finger

Cone-shaped epiphyses of the phalanges of the hand

Shortening of all middle phalanges of the fingers

Reduced proximal interphalangeal joint space

Shortening of all proximal phalanges of the fingers

Short phalanx of finger

Broad thumb

Short thumb

Arachnodactyly

Broad hallux

Short toe

Clinodactyly

Brachydactyly

Type E brachydactyly

Abnormal femoral epiphysis morphology

Hypoplasia of the capital femoral epiphysis

Avascular necrosis of the capital femoral epiphysis

Flat capital femoral epiphysis

Proximal femoral epiphysiolysis

Irregular femoral epiphysis

Abnormality of tibial epiphyses

Absent styloid process of ulna

Flattened femoral head

Coxa valga

Coxa vara

Short femoral neck

Club-shaped proximal femur

Dumbbell-shaped femur

Short metatarsal

Internal tibial torsion

Delayed calcaneal ossification

Short foot

Abnormal hand metaphysis morphology

Metaphyseal cupping

Metaphyseal irregularity

Metaphyseal dappling

Metaphyseal spurs

Dumbbell-shaped long bone

Flared metaphysis

Hypoplasia of the ulna

Flattened humeral heads

Abnormal metacarpophalangeal joint morphology

Short metacarpal

Aplasia/hypoplasia involving bones of the extremities

Short palm

Abnormal hip joint morphology

Abnormal acetabulum morphology

Acetabular spurs

Flat acetabular roof

Protrusio acetabuli

Hip contracture

Hip dislocation

Double-layered patella

Limitation of knee mobility

Abnormal carpal morphology

Delayed ossification of carpal bones

Short tubular bones of the hand

Limited elbow movement

Limited elbow extension

Limb undergrowth

Micromelia

Severe limb shortening

Rhizomelia

Rhizomelic arm shortening

Rhizomelic leg shortening

Joint hypermobility

Limitation of joint mobility

Joint stiffness

Limited hip movement

Restricted large joint movement

Delayed skeletal maturation

Morbus Scheuermann

Bone pain

Knee pain

Abnormal epiphysis morphology

Abnormal vertebral epiphysis morphology

Delayed epiphyseal ossification

Flattened, squared-off epiphyses of tubular bones

Epiphyseal dysplasia

Flattened epiphysis

Irregular epiphyses

Small epiphyses

Splayed epiphyses

Broad long bones

Short long bone

Narrow greater sciatic notch

Hypoplastic iliac wing

Hypoplastic ilia

Hypoplastic ischia

Delayed pubic bone ossification

Hypoplastic pubic bone

Arthralgia of the hip

Hip dysplasia

Hypoplastic pelvis

Short ribs

Anterior rib cupping

Horizontal ribs

Thin ribs

Barrel-shaped chest

Hypoplastic scapulae

Pectus carinatum

Pectus excavatum

Thoracolumbar kyphosis

Thoracic scoliosis

Short thorax

Thoracic hypoplasia

Narrow chest

Hyperlordosis

Lumbar hyperlordosis

Kyphosis

Kyphoscoliosis

Lumbar kyphoscoliosis

Scoliosis

Intervertebral space narrowing

Abnormal lumbar spine morphology

Hypoplasia of the odontoid process

Abnormal vertebral morphology

Abnormal form of the vertebral bodies

Abnormality of the vertebral endplates

Irregular vertebral endplates

Beaking of vertebral bodies

Biconcave vertebral bodies

Disc-like vertebral bodies

Ovoid vertebral bodies

Platyspondyly

Lumbar platyspondyly

Severe platyspondyly

Wafer-thin platyspondyly

Thoracic platyspondyly

Coronal cleft vertebrae

Vertebral wedging

Abnormally ossified vertebrae

Absent vertebral body mineralization

C1-C2 subluxation

Atlantoaxial instability

Low back pain

Spinal canal stenosis

Cervical instability

Spondylolisthesis

Disproportionate short-trunk short stature

Neonatal short-trunk short stature

Reduced bone mineral density

Abnormal cartilage collagen

Arthritis

Osteoarthritis

Arthropathy

Enlarged joints

Joint dislocation

Chondrosarcoma

Skeletal dysplasia

Lethal skeletal dysplasia

Multiple epiphyseal dysplasia

Spondyloepimetaphyseal dysplasia

Spondyloepiphyseal dysplasia

Disease(s) Associated with COL2A1

achondrogenesis type II

chondrosarcoma

Kniest dysplasia

Legg-Calve-Perthes disease

multiple epiphyseal dysplasia with myopia and deafness

spondyloepimetaphyseal dysplasia, Strudwick type

spondyloepiphyseal dysplasia congenita

spondyloepiphyseal dysplasia Stanescu type

spondyloperipheral dysplasia

Stickler syndrome

Stickler syndrome 1

Torrance type platyspondylic dysplasia

Mouse Phenotypes

skeleton phenotype

increased chondrocyte apoptosis

abnormal cranium morphology

increased cranium length

small cranium

abnormal neurocranium morphology

short mandible

premaxilla hypoplasia

maxilla hypoplasia

retrognathia

nasal bone hypoplasia

short nasal bone

short facial bone

domed cranium

abnormal phalanx morphology

abnormal elbow joint morphology

increased diameter of humerus

short humerus

short radius

increased diameter of radius

abnormal ulna morphology

short ulna

increased diameter of ulna

short femur

increased diameter of femur

increased diameter of fibula

short fibula

increased diameter of tibia

short tibia

abnormal limb bone morphology

abnormal limb long bone morphology

abnormal skeleton morphology

abnormal long bone morphology

abnormal long bone epiphyseal plate morphology

abnormal long bone epiphyseal ossification zone morphology

abnormal long bone epiphyseal plate proliferative zone

abnormal long bone hypertrophic chondrocyte zone

decreased width of hypertrophic chondrocyte zone

disorganized long bone epiphyseal plate

increased long bone epiphyseal plate size

abnormal long bone epiphysis morphology

abnormal long bone metaphysis morphology

decreased length of long bones

increased diameter of long bones

abnormal scapula morphology

abnormal pelvic girdle bone morphology

abnormal thoracic cage morphology

abnormal rib morphology

short ribs

small thoracic cage

absent intervertebral disk

abnormal vertebrae morphology

short lumbar vertebrae

abnormal vertebrae development

platyspondylia

abnormal vertebral arch morphology

abnormal vertebral body morphology

enlarged vertebral body

vertebral body hypoplasia

short vertebral column

abnormal bone structure

abnormal bone marrow cavity morphology

decreased bone mineral density

decreased trabecular bone volume

decreased bone volume

increased compact bone thickness

abnormal trabecular bone morphology

decreased bone trabecula number

abnormal cartilage morphology

abnormal cartilage development

abnormal chondrocyte morphology

abnormal chondrocyte differentiation

abnormal articular cartilage morphology

abnormal perichondrium morphology

abnormal skeleton development

abnormal epiphyseal plate morphology

chondrodystrophy

abnormal skeleton physiology

abnormal bone ossification

abnormal endochondral bone ossification

delayed endochondral bone ossification

delayed bone ossification

abnormal chondrocyte physiology

abnormal joint mobility

Availability

Mouse Genotype

Col2a1^Dmm/Col2a1^Dmm

Col2a1^Lpk/Col2a1^Lpk

Col2a1^m1Btlr/Col2a1^m1Btlr

Col2a1^mc13/Col2a1^mc13

Col2a1^Rgsc413/Col2a1^Rgsc413

Col2a1^Rgsc856/Col2a1^Rgsc856

Col2a1^tm1.1Ksec/Col2a1^tm1.1Ksec

Col2a1^tm1Dshh/Col2a1^tm1Dshh

Col2a1^tm1Prc/Col2a1^tm1Prc

Col2a1^Dmm/Col2a1⁺

Col2a1^Lpk/Col2a1⁺

Col2a1^m1Btlr/Col2a1⁺

Col2a1^M2J/Col2a1⁺

Col2a1^Rgsc413/Col2a1⁺

Col2a1^Rgsc856/Col2a1⁺

Col2a1^tm1Prc/Col2a1⁺

Tg(Col2a1*G574S)1Waho/0

Tg(Col2a1*R789C)#Waho/0

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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