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Symbol
Name
ID
Col10a1
collagen, type X, alpha 1
MGI:88445
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Femoral bowing
Genu valgum
Genu varum
Distal tibial bowing
Short distal phalanx of finger
Short middle phalanx of finger
Broad middle phalanx of finger
Enlargement of the proximal femoral epiphysis
Abnormal proximal femoral metaphysis morphology
Broad femoral neck
Coxa vara
Metaphyseal cupping of metacarpals
Metaphyseal cupping of proximal phalanges
Metaphyseal chondrodysplasia
Metaphyseal irregularity
Metaphyseal sclerosis
Metaphyseal widening
Irregular acetabular roof
Disease(s) Associated with COL10A1
Schmid metaphyseal chondrodysplasia

Mouse Phenotypes
abnormal femur morphology
coxa vara
short femur
Availability Mouse Genotype
Col10a1tm1.1Rpbh/Col10a1tm1.1Rpbh
Col10a1tm1Ksec/Col10a1tm1Ksec
Col10a1tm1.1Rpbh/Col10a1+

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
04/30/2024
MGI 6.23
The Jackson Laboratory