Symbol
Name
ID

Atp7a
ATPase, Cu++ transporting, alpha polypeptide
MGI:99400

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

Abnormal skull morphology

Brachycephaly

Microcephaly

Delayed cranial suture closure

Persistent open anterior fontanelle

Wormian bones

Large fontanelles

Genu valgum

Brachydactyly

Avascular necrosis of the capital femoral epiphysis

Coxa valga

Coxa vara

Abnormal fibula morphology

Absent tibia

Metaphyseal spurs

Metaphyseal widening

Humerus varus

Aplasia/hypoplasia of the humerus

Short humerus

Short palm

Hip dislocation

Limited knee extension

Capitate-hamate fusion

Limited elbow extension

Abnormality of the wrist

Joint hypermobility

Synostosis of joints

Large iliac wing

Abnormal pubic bone morphology

Hip dysplasia

Pelvic bone exostoses

Down-sloping shoulders

Aplastic clavicle

Short clavicles

Broad clavicles

Broad ribs

Pectus carinatum

Pectus excavatum

Narrow chest

Kyphosis

Scoliosis

Platyspondyly

Osteomalacia

Osteopenia

Osteoporosis

Rickets

Osteolysis

Exostoses

Cerebral calcification

Disease(s) Associated with ATP7A

Menkes disease

occipital horn syndrome

Mouse Phenotypes		osteoarthritis	abnormal limb bone morphology	calcified tendon	abnormal skeleton morphology	abnormal pectoral girdle bone morphology	abnormal pelvic girdle bone morphology	abnormal rib morphology	wide ribs	abnormal vertebrae morphology	abnormal cartilage morphology
Availability	Mouse Genotype	osteoarthritis	abnormal limb bone morphology	calcified tendon	abnormal skeleton morphology	abnormal pectoral girdle bone morphology	abnormal pelvic girdle bone morphology	abnormal rib morphology	wide ribs	abnormal vertebrae morphology	abnormal cartilage morphology
	Atp7a^Mo-12H/Atp7a⁺
	Atp7a^Mo-dp2/Atp7a⁺
	Atp7a^Mo-dp/Atp7a⁺
	Atp7a^Mo-to/Atp7a⁺
	Atp7a^Mo-blo/Y
	Atp7a^Mo-dp/Y

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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