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Symbol
Name
ID
Acan
aggrecan
MGI:99602
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Genu valgum
Genu varum
Flat capital femoral epiphysis
Micromelia
Delayed skeletal maturation
Abnormal epiphysis morphology
Short thorax
Platyspondyly
Osteoarthritis
Spondyloepiphyseal dysplasia
Disease(s) Associated with ACAN
spondyloepiphyseal dysplasia Kimberley type

Mouse Phenotypes
abnormal craniofacial bone morphology
short basicranium
decreased susceptibility to induced arthritis
short humerus
short femur
short tibia
absent caudal vertebrae
abnormal tracheal cartilage morphology
decreased length of long bones
abnormal rib morphology
abnormal intervertebral disk morphology
intervertebral disk degeneration
kyphosis
lordosis
abnormal vertebrae morphology
abnormal vertebral body morphology
short vertebral column
abnormal trabecular bone morphology
abnormal cartilage development
abnormal chondrocyte morphology
abnormal joint morphology
Availability Mouse Genotype
Acancmd/Acancmd
Acanm2Btlr/Acanm2Btlr
Acanmpc227H/Acanmpc227H
Acantm2Afos/Acantm2Afos
Acancmd/Acan+
Acanm1Btlr/Acan+
Acanm2Btlr/Acan+

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
04/23/2024
MGI 6.23
The Jackson Laboratory