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Symbol
Name
ID
Col11a1
collagen, type XI, alpha 1
MGI:88446
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Camptodactyly
Camptodactyly of finger
Joint contracture of the hand
Micrognathia
Hypoplasia of the maxilla
Absent frontal sinuses
Hypoplastic frontal sinuses
Malar flattening
Hypoplasia of the zygomatic bone
Frontal bossing
Brachycephaly
Plagiocephaly
Widely patent coronal suture
Widely patent sagittal suture
Wide anterior fontanel
Thickened calvaria
Short neck
Clinodactyly of the 5th finger
Long fingers
Arachnodactyly
Wide tufts of distal phalanges
Brachydactyly
Abnormality of femoral epiphysis
Irregular distal femoral epiphysis
Small distal femoral epiphysis
Irregular femoral epiphysis
Coxa valga
Fibular hypoplasia
Irregular proximal tibial epiphyses
Small proximal tibial epiphyses
Short foot
Radial bowing
Ulnar bowing
Abnormality of the metaphysis
Metaphyseal cupping
Metaphyseal widening
Dumbbell-shaped long bone
Genu valgum
Short palm
Small hand
Micromelia
Rhizomelia
Calcification of falx cerebri
Meningeal calcification
Cerebral calcification
Abnormal diaphysis morphology
Enlarged epiphyses
Epiphyseal dysplasia
Broad long bones
Short long bone
Narrow greater sacrosciatic notches
Hypoplastic ilia
Broad ischia
Hypoplastic ischia
Hypoplastic pubic bone
Long clavicles
Thin clavicles
Abnormality of the ribs
Short ribs
Broad ribs
Anterior rib cupping
Posterior rib cupping
Thin ribs
Bell-shaped thorax
Hypoplastic scapulae
Pectus excavatum
Thoracic hypoplasia
Narrow chest
Abnormal form of the vertebral bodies
Beaking of vertebral bodies
Platyspondyly
Posterior vertebral hypoplasia
Morbus Scheuermann
Kyphosis
Scoliosis
Spondylolisthesis
Osteoarthritis
Premature osteoarthritis
Arthropathy
Spondyloepiphyseal dysplasia
Joint hypermobility
Disease(s) Associated with COL11A1
fibrochondrogenesis
Marshall syndrome
Stickler syndrome

Mouse Phenotypes
short mandible
small Meckel's cartilage
osteoarthritis
abnormal knee joint morphology
abnormal tracheal cartilage morphology
abnormal long bone diaphysis morphology
abnormal long bone epiphyseal plate morphology
abnormal long bone epiphyseal plate proliferative zone
abnormal long bone metaphysis morphology
decreased length of long bones
increased diameter of long bones
abnormal costal cartilage morphology
abnormal bone marrow cavity morphology
abnormal trabecular bone morphology
abnormal chondrocyte morphology
abnormal hyaline cartilage morphology
abnormal epiphyseal plate morphology
decreased bone mineralization
abnormal endochondral bone ossification
abnormal joint mobility
Availability Mouse Genotype
Col11a1cho/Col11a1cho
Col11a1cho/Col11a1+

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
12/03/2019
MGI 6.14
The Jackson Laboratory