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Symbol
Name
ID

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

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Intracranial hemorrhage

Microcephaly

Abnormality of the sense of smell

Orthostatic hypotension

Dysphagia

Cerebral calcification

Abnormal peripheral nervous system morphology

Babinski sign

Hypsarrhythmia

Intellectual disability

Hyporeflexia

Unsteady gait

Developmental regression

Global developmental delay

Specific learning disability

Seizure

Epileptic spasm

Distal sensory impairment

Disease(s) Associated with ATP7A

Menkes disease

occipital horn syndrome

X-linked distal spinal muscular atrophy 3

Mouse Phenotypes

nervous system phenotype

tonic seizures

increased neuron apoptosis

increased brain apoptosis

decreased brainstem copper level

decreased brain copper level

increased brain copper level

abnormal Ammon gyrus morphology

abnormal cerebral cortex morphology

abnormal Purkinje cell morphology

abnormal cerebellar granule layer morphology

motor neuron degeneration

abnormal neuromuscular synapse morphology

Availability

Mouse Genotype

Atp7a^Mo-blo/Atp7a⁺

Atp7a^Mo-dp/Atp7a⁺

Atp7a^Mo-ml/Atp7a⁺

Atp7a^Mo-Tohm/Atp7a⁺

Atp7a^Mo-3Btlr/Y

Atp7a^Mo-br/Y

Atp7a^Mo-ml/Y

Atp7a^Mo-ms/Y

Atp7a^tm1.2Mlke/Y

*

Atp7a^tm1.1Mjp/Y
Mnx1^tm4(cre)Tmj/Mnx1⁺ (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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