Symbol
Name
ID

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

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes

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

Pes cavus

Pes planus

Hip dislocation

Limited knee extension

Capitate-hamate fusion

Limited elbow extension

Abnormality of the wrist

Disease(s) Associated with ATP7A

Menkes disease

occipital horn syndrome

X-linked distal spinal muscular atrophy 3

Mouse Phenotypes		abnormal tail bud morphology	abnormal autopod morphology	clubfoot	abnormal hindlimb morphology	abnormal limb bone morphology
Availability	Mouse Genotype	abnormal tail bud morphology	abnormal autopod morphology	clubfoot	abnormal hindlimb morphology	abnormal limb bone morphology
	Atp7a^Mo-blo/Atp7a^Mo-blo
	Atp7a^Mo-12H/Atp7a⁺
	Atp7a^Mo-blo/Atp7a⁺
	Atp7a^Mo-dp2/Atp7a⁺
	Atp7a^Mo-dp/Atp7a⁺
	Atp7a^Mo-to/Atp7a⁺
	Atp7a^Mo-blo/Y
	Atp7a^Mo-dp/Y
	Atp7a^tm1.1Mjp/Y Cldn6^tm1(cre)Dkwu/Cldn6⁺ (conditional)

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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