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Symbol
Name
ID
Pitx2
paired-like homeodomain transcription factor 2
MGI:109340
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Appendicular hypotonia
Axial hypotonia
Neonatal hypotonia
EMG: chronic denervation signs
Muscle weakness
Neck muscle weakness
Progressive muscle weakness
Disease(s) Associated with PITX2
Arts syndrome

Mouse Phenotypes
abnormal facial muscle morphology
abnormal eye muscle morphology
abnormal extraocular muscle morphology
absent extraocular muscles
abnormal eye muscle development
Availability Mouse Genotype
Pitx2tm1Jfm/Pitx2tm1Jfm
Pitx2tm1Kki/Pitx2tm1Kki
Pitx2tm1Rsd/Pitx2tm1Rsd
Pitx2tm1Sac/Pitx2tm1Sac
Pitx2tm2Sac/Pitx2tm2Sac

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
04/16/2024
MGI 6.23
The Jackson Laboratory