Phenotypes associated with this allele

• Allele Symbol: Otx1⁺
• Allele Name: wild type
• Allele ID: MGI:2137342
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Otx1^tm4(cre)Asim/Otx1^+ Otx2^tm6Asim/Otx2^tm6.1Asim	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	MGI:2661066
cx2	Otx1^tm1Sia/Otx1^+ Otx2^tm1Sia/Otx2^+	involves: C57BL/6 * CBA	MGI:3579861
cx3	Otx1^tm1Sia/Otx1^+ Otx2^tm2(Otx1)Sia/Otx2^+	involves: C57BL/6 * CBA	MGI:3696381

Genotype
MGI:2661066

cn1

• Allelic Composition: Otx1^tm4(cre)Asim/Otx1⁺; Otx2^tm6Asim/Otx2^tm6.1Asim
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:83110 )

• all mutants die at birth

nervous system

abnormal neuronal precursor proliferation ( J:83110 )

• proliferating neuroblasts are increased in number in floor plate neuroepithelium at E12.5

abnormal midbrain-hindbrain boundary morphology ( J:83110 )

• isthmus is reduced in size and thickness at E18.5

small tectum ( J:83110 )

• posterior tectum is reduced in size and thickness at E18.5

abnormal tegmentum morphology ( J:83110 )

• tegmentum is enlarged at E18.5

cellular

abnormal neuronal precursor proliferation ( J:83110 )

• proliferating neuroblasts are increased in number in floor plate neuroepithelium at E12.5

Genotype
MGI:3579861

cx2

• Allelic Composition: Otx1^tm1Sia/Otx1⁺; Otx2^tm1Sia/Otx2⁺
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

prenatal lethality, complete penetrance ( J:73592 )

• no double heterozygous mutants are live-born

nervous system

abnormal nervous system morphology ( J:73592 )

• the medial longitudinal fasciculus is diminished

abnormal brain development ( J:51989 )

• at E10.5, the region between the otic vesicle and the isthmic constriction is enlarged, whereas that between the constriction and the sulcus telodiencephalicus is shortened

abnormal midbrain-hindbrain boundary morphology ( J:51989 )

• the isthmic constriction is not distinct

abnormal rhombic lip morphology ( J:73592 )

• expanded rhombic lip

abnormal posterior commissure morphology ( J:73592 )

• the posterior commissure is poorly fasciculated

abnormal midbrain morphology ( J:51989 , J:73592 )

• the midbrain is vestigial (J:51989)

• major nuclei in the mesencephalon such as the red nucleus and the oculomotor nucleus are present only as remnants in severe cases (J:73592)

decreased midbrain size ( J:73592 )

• reduced midbrain size

enlarged cerebral aqueduct ( J:73592 )

• greatly expanded aqueduct mesencephali

abnormal inferior colliculus morphology ( J:73592 )

• poorly developed

abnormal superior colliculus morphology ( J:73592 )

• poorly developed

abnormal oculomotor nucleus morphology ( J:73592 )

• the oculomotor nucleus is present only as a remnant in severe cases

abnormal pretectal region morphology ( J:51989 )

• the pretectum is vestigal

abnormal tegmentum morphology ( J:73592 )

• poorly developed

abnormal red nucleus morphology ( J:73592 )

• the red nucleus is present only as a remnant in severe cases

abnormal trigeminal V mesencephalic nucleus morphology ( J:73592 )

• axonal morphology of mesencephalic neurons is more disturbed than in Otx1 homozygotes

abnormal forebrain morphology ( J:51989 )

• invagination of the sulcus telodiencephalicus is poor

decreased substantia nigra size ( J:73592 )

• present only as a remnant in severe cases

abnormal diencephalon morphology ( J:73592 )

• decreased in size

• abnormal fasciculation and axonal pathway of the mammillothalamic tract

• the habenulopeduncular tract is meager, the axonal pathway is disturbed, and in severe cases, the tract is vestigial

abnormal hypothalamus morphology ( J:73592 )

• in severe cases, the hypothalamus is poorly developed

abnormal mammillary body morphology ( J:73592 )

• in severe cases, the mammillary body is poorly developed

small thalamus ( J:51989 , J:73592 )

• the thalamus is vestigial (J:51989)

• in severe cases, the ventral thalamus is poorly developed (J:73592)

abnormal telencephalon morphology ( J:51989 , J:73592 )

• smaller telencephalon (J:51989)

• abnormalities, especially in the dorsal part of the telencelphalon and in severe cases, no differentiation of the telencephalon was detected (J:73592)

abnormal cerebral hemisphere morphology ( J:51989 )

• cerebral hemispheres are mildly reduced in size

small hippocampus ( J:51989 , J:73592 )

• reduced size of hippocampal region and is even lacking in severe cases (J:73592)

abnormal cerebral cortex morphology ( J:73592 )

• cerebral cortical layers are poorly differentiated, the cortical plate and the ventricular zone are very narrow and the intermediate zone is expanded

small olfactory bulb ( J:73592 )

• olfactory bulb and septum are somewhat smaller in severely affected embryos but organization is normal

abnormal metencephalon morphology ( J:51989 )

• the anterior hindbrain is expanded

increased pons size ( J:51989 )

• the pons is expanded

enlarged cerebellum ( J:51989 , J:73592 )

• expanded cerebellum in severe cases (J:73592)

abnormal oculomotor nerve morphology ( J:73592 )

• oculomotor nerves emerge but are poorly fasciculated

abnormal optic nerve morphology ( J:73592 )

• ophthalmic branch is poorly fasciculated and even lost in severe cases, however the mandibular and maxillary branches develop normally

abnormal trochlear nerve morphology ( J:73592 )

• trochlear nerves emerge but are poorly fasciculated

skeleton

abnormal cranium morphology ( J:73592 )

• alicochlear commissure has several extra cartilage branches

abnormal sphenoid bone morphology ( J:73592 )

basisphenoid bone foramen ( J:73592 )

• basisphenoid has a single foramen

abnormal orbitosphenoid bone morphology ( J:73592 )

• incomplete ossification of the oribitosphenoid

presphenoid bone hypoplasia ( J:73592 )

• poorly developed presphenoid

abnormal cartilage morphology ( J:73592 )

• alicochlear commissure has several extra cartilage branches

craniofacial

abnormal cranium morphology ( J:73592 )

• alicochlear commissure has several extra cartilage branches

abnormal sphenoid bone morphology ( J:73592 )

basisphenoid bone foramen ( J:73592 )

• basisphenoid has a single foramen

abnormal orbitosphenoid bone morphology ( J:73592 )

• incomplete ossification of the oribitosphenoid

presphenoid bone hypoplasia ( J:73592 )

• poorly developed presphenoid

vision/eye

abnormal orbitosphenoid bone morphology ( J:73592 )

• incomplete ossification of the oribitosphenoid

abnormal optic nerve morphology ( J:73592 )

• ophthalmic branch is poorly fasciculated and even lost in severe cases, however the mandibular and maxillary branches develop normally

Genotype
MGI:3696381

cx3

• Allelic Composition: Otx1^tm1Sia/Otx1⁺; Otx2^tm2(Otx1)Sia/Otx2⁺
• Genetic Background: involves: C57BL/6 * CBA

nervous system

increased rhombomere 1 size ( J:51989 )

• majority of E10.5 embryos show slightly expanded rhombomere 1

abnormal midbrain-hindbrain boundary morphology ( J:51989 )

• majority of E10.5 embryos show a somewhat extended isthmic constriction

decreased midbrain size ( J:51989 )

• majority of E10.5 embryos show a smaller mesencephalon

• however, sulcus telodiencephalicus is present normally and no defects are seen in telencephalon or diencephalons

embryo

increased rhombomere 1 size ( J:51989 )

• majority of E10.5 embryos show slightly expanded rhombomere 1