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Symbol
Name
ID
Atad3a
ATPase family, AAA domain containing 3A
MGI:1919214
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Spasticity
Spastic gait
Hypotonia
Axial hypotonia
Distal amyotrophy
Lower limb amyotrophy
Disease(s) Associated with ATAD3A
Harel-Yoon syndrome
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome

Mouse Phenotypes
decreased skeletal muscle fiber mitochondrial DNA content
abnormal muscle fiber mitochondrial morphology
abnormal muscle fiber morphology
skeletal muscle fiber atrophy
skeletal muscle fiber degeneration
decreased skeletal muscle weight
Availability Mouse Genotype
Atad3atm1c(KOMP)Wtsi/Atad3atm1c(KOMP)Wtsi
Myl1tm1(cre)Sjb/Myl1+  (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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory