Symbol
Name
ID

Otx2
orthodenticle homeobox 2
MGI:97451

Phenotype annotations related to nervous system

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

Human Phenotypes	Decreased response to growth hormone stimulation test	Ectopic posterior pituitary	Anterior pituitary hypoplasia	Ectopic anterior pituitary gland	Hypopituitarism	Abnormal prolactin level	Pituitary hypothyroidism	Optic nerve hypoplasia	Global developmental delay	Seizure
Disease(s) Associated with OTX2	Decreased response to growth hormone stimulation test	Ectopic posterior pituitary	Anterior pituitary hypoplasia	Ectopic anterior pituitary gland	Hypopituitarism	Abnormal prolactin level	Pituitary hypothyroidism	Optic nerve hypoplasia	Global developmental delay	Seizure
panhypopituitarism
syndromic microphthalmia 5

Mouse Phenotypes

nervous system phenotype

intracranial hemorrhage

decreased susceptibility to dopaminergic neuron neurotoxicity

increased susceptibility to dopaminergic neuron neurotoxicity

abnormal neuron differentiation

abnormal neuronal precursor proliferation

abnormal vomeronasal organ morphology

absent vomeronasal organ

abnormal neural tube morphology

abnormal embryonic neuroepithelium morphology

decreased embryonic neuroepithelium thickness

open neural tube

abnormal adenohypophysis morphology

abnormal gonadotroph morphology

decreased gonadotroph cell number

abnormal ciliary ganglion morphology

abnormal brain development

abnormal forebrain development

absent embryonic telencephalon

abnormal hindbrain development

abnormal midbrain development

abnormal midbrain-hindbrain boundary morphology

ethmocephaly

decreased forebrain size

forebrain hypoplasia

decreased midbrain size

midbrain hypoplasia

absent choroid plexus

abnormal third ventricle morphology

abnormal midbrain morphology

abnormal inferior colliculus morphology

decreased inferior colliculus size

small tectum

abnormal tegmentum morphology

abnormal trigeminal V mesencephalic nucleus morphology

absent midbrain

abnormal forebrain morphology

abnormal diencephalon morphology

absent diencephalon

abnormal cerebral cortex morphology

absent olfactory bulb

absent forebrain

abnormal hindbrain morphology

abnormal metencephalon morphology

absent metencephalon

abnormal nervous system development

anencephaly

exencephaly

decreased dopaminergic neuron number

loss of dopaminergic neurons

decreased retina ganglion cell number

decreased retina photoreceptor cell number

decreased retina cone cell number

abnormal retina bipolar cell morphology

abnormal retina horizontal cell morphology

abnormal oculomotor nerve morphology

abnormal optic nerve morphology

abnormal trigeminal nerve morphology

abnormal trochlear nerve morphology

Availability

Mouse Genotype

Otx2^tm1Pas/Otx2^tm1Pas

Otx2^tm1Sia/Otx2^tm1Sia

Otx2^tm1Sla/Otx2^tm1Sla

Otx2^tm2Asim/Otx2^tm2Asim

Otx2^tm3Tlam/Otx2^tm3Tlam

Otx2^tm5Sia/Otx2^tm5Sia

Otx2^tm6Sia/Otx2^tm6Sia

Otx2^tm7Sia/Otx2^tm7Sia

Otx2^tm8.2Sia/Otx2^tm8.2Sia

Otx2^tm9Asim/Otx2^tm9Asim

Otx2^tm9Sia/Otx2^tm9Sia

Otx2^tm10Asim/Otx2^tm10Asim

Otx2^tm10Sia/Otx2^tm10Sia

Otx2^tm12.1Asim/Otx2^tm12.1Asim

Otx2^tm1Pas/Otx2⁺

Otx2^tm1Pas/Otx2^tm2Asim

Otx2^tm1Sia/Otx2⁺

Otx2^tm1Sia/Otx2^tm4Sia

Otx2^tm1Sia/Otx2^tm5Sia

Otx2^tm1Sia/Otx2^tm6Sia

Otx2^tm1Sia/Otx2^tm9Sia

Otx2^tm1Sia/Otx2^tm10Sia

Otx2^tm1Sla/Otx2⁺

Otx2^tm1Sla/Otx2^tm2Sla

Otx2^tm2.1Imat/Otx2^tm7Sia

Otx2^tm9Asim/Otx2^tm11Asim

Otx2^tm11Asim/Otx2⁺

Otx2^tm12.1Asim/Otx2⁺

Otx2^tm12.1Asim/Otx2^tm11Asim

Gt(ROSA)26Sor^{tm1.1(Otx2)Daac}/Gt(ROSA)26Sor^{tm1.1(Otx2)Daac}
Slc6a3^{tm1.1(cre)Bkmn}/Slc6a3⁺ (conditional)

Gt(ROSA)26Sor^{tm1.1(Otx2)Daac}/Gt(ROSA)26Sor⁺
Slc6a3^{tm1.1(cre)Bkmn}/Slc6a3⁺ (conditional)

H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Tg(CAG-Otx2,-EGFP)1Eno/? (conditional)

Otx1^tm4(cre)Asim/Otx1⁺
Otx2^tm6Asim/Otx2^tm6.1Asim (conditional)

Otx2^tm1.1Tlam/Otx2^{tm2(cre/ERT2)Tlam} (conditional)

Otx2^tm6Asim/Otx2^tm11Asim
Slc6a3^{tm1.1(cre)Bkmn}/Slc6a3⁺ (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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