Symbol
Name
ID

Pitx2
paired-like homeodomain transcription factor 2
MGI:109340

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Drooling

Dysphagia

Decreased response to growth hormone stimulation test

Severe demyelination of the white matter

Spinal cord posterior columns myelin loss

Ataxia

Tetraplegia

Abnormality of somatosensory evoked potentials

EEG with focal epileptiform discharges

Decreased motor nerve conduction velocity

Absent speech

Mutism

Intellectual disability

Intellectual disability, mild

Intellectual disability, moderate

Hyperreflexia

Areflexia

Global developmental delay

Motor delay

Peripheral neuropathy

Seizure

Disease(s) Associated with PITX2

Arts syndrome

Axenfeld-Rieger syndrome type 1

Mouse Phenotypes

abnormal neuron differentiation

abnormal neuronal migration

abnormal adenohypophysis morphology

abnormal adenohypophysis development

abnormal Rathke's pouch apoptosis

abnormal Rathke's pouch development

small Rathke's pouch

absent gonadotrophs

decreased somatotroph cell number

decreased thyrotroph cell number

adenohypophysis hypoplasia

abnormal pituitary gland development

pituitary gland hypoplasia

exencephaly

abnormal nervous system tract morphology

abnormal optic disk morphology

optic nerve cupping

Availability

Mouse Genotype

Pitx2^egl1/Pitx2^egl1

Pitx2^tm1Rsd/Pitx2^tm1Rsd

Pitx2^tm1Sac/Pitx2^tm1Sac

Pitx2^tm2Sac/Pitx2^tm2Sac

Pitx2^tm1.1Dmm/Pitx2^tm2Sac

Pitx2^{tm1b(EUCOMM)Wtsi}/Pitx2⁺

Pitx2^tm1Sac/Pitx2^tm2Sac

Pitx2^tm1.1Dmm/Pitx2^tm1.1Sac
Tg(Nes-cre)1Kln/0 (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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