Phenotypes associated with this allele

• Allele Symbol: Otx1^tm1Sia
• Allele Name: targeted mutation 1, Shinichi Aizawa
• Allele ID: MGI:2153198
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Otx1^tm1Sia/Otx1^tm1Sia	involves: C57BL/6 * CBA	MGI:3579858
cx2	Otx1^tm1Sia/Otx1^tm1Sia Otx2^tm8.2Sia/Otx2^tm8.2Sia	involves: C57BL/6 * CBA	MGI:4867636
cx3	Otx1^tm1Sia/Otx1^+ Otx2^tm1Sia/Otx2^+	involves: C57BL/6 * CBA	MGI:3579861
cx4	Emx2^tm1Sia/Emx2^tm1Sia Otx1^tm1Sia/Otx1^tm1Sia	involves: C57BL/6 * CBA	MGI:3580106
cx5	Otx1^tm1Sia/Otx1^+ Otx2^tm2(Otx1)Sia/Otx2^+	involves: C57BL/6 * CBA	MGI:3696381
cx6	Otx1^tm1Sia/Otx1^tm1Sia Otx2^tm5Sia/Otx2^tm5Sia	involves: C57BL/6NCrlj * CBA/JNCrlj	MGI:3047002
cx7	Otx1^tm1Sia/Otx1^tm1Sia Otx2^tm10Sia/Otx2^tm10Sia	involves: C57BL/6NCrlj * CBA/JNCrlj	MGI:5608501
cx8	Emx1^tm1Sia/Emx1^tm1Sia Otx1^tm1Sia/Otx1^tm1Sia	Not Specified	MGI:3580108

Genotype
MGI:3579858

hm1

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

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

mortality/aging

neonatal lethality, complete penetrance ( J:73592 )

• died within 24 hours after birth for unknown reasons

nervous system

abnormal nervous system morphology ( J:73592 )

• poor fasciculation of the medial longitudinal fasciculus

abnormal third ventricle morphology ( J:73592 )

• narrowed third ventricle

abnormal trigeminal V mesencephalic nucleus morphology ( J:73592 )

• diminished numbers of mesencephalic trigeminal neurons and their axonal pathways were disturbed

• the mesencephalic trigeminal root was sparse

small hippocampus ( J:73592 )

• hippocampus was sometimes smaller

abnormal cerebral cortex morphology ( J:73592 )

• neocortex was smaller laterally, cortical layers were poorly differentiated, the cortical plate and white matter were thin, and the subcortical plate was hardly visible

skeleton

abnormal cranium morphology ( J:73592 )

• presence of extra cartilage processes in the alicochlear commissure

abnormal orbitosphenoid bone morphology ( J:73592 )

• incomplete ossification of the orbitosphenoid

abnormal cartilage morphology ( J:73592 )

• presence of extra cartilage processes in the alicochlear commissure

vision/eye

abnormal orbitosphenoid bone morphology ( J:73592 )

• incomplete ossification of the orbitosphenoid

absent lacrimal glands ( J:73592 )

• lacrimal gland had not developed

increased cornea thickness ( J:73592 )

• thick cornea

abnormal eye anterior chamber morphology ( J:73592 )

• anterior chamber was narrowed

abnormal lens morphology ( J:73592 )

• irregularly shaped lens

retina hyperplasia ( J:73592 )

• the outer/inner layers of the retina were hyperplastic, however the optic nerve was normal

digestive/alimentary system

meteorism ( J:73592 )

• accumulation of air bubbles in stomach and intestine, however the morphology of the gut or intestine and velum platinum, epiglottis, and pharyngeal muscle were normal

craniofacial

abnormal cranium morphology ( J:73592 )

• presence of extra cartilage processes in the alicochlear commissure

abnormal orbitosphenoid bone morphology ( J:73592 )

• incomplete ossification of the orbitosphenoid

endocrine/exocrine glands

absent lacrimal glands ( J:73592 )

• lacrimal gland had not developed

growth/size/body

meteorism ( J:73592 )

• accumulation of air bubbles in stomach and intestine, however the morphology of the gut or intestine and velum platinum, epiglottis, and pharyngeal muscle were normal

Genotype
MGI:4867636

cx2

• Allelic Composition: Otx1^tm1Sia/Otx1^tm1Sia; Otx2^tm8.2Sia/Otx2^tm8.2Sia
• Genetic Background: involves: C57BL/6 * CBA

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:166617 )

• the isthmus is expanded anteriorly compared to in wild-type mice

• isthmic cells are abnormally organized with overgrowth in the ventricular zone cells that faces the fourth ventricle

absent tectum ( J:166617 )

absent tegmentum ( J:166617 )

absent midbrain ( J:166617 )

• the mesencephalon is absent unlike in wild-type mice

increased pons size ( J:166617 )

• expanded anteriorly

absent diencephalon ( J:166617 )

• the diencephalon is absent unlike in wild-type mice

abnormal cerebral cortex morphology ( J:166617 )

• the medial pallium is residual with caudal deformation compared to in wild-type mice

abnormal embryonic/fetal subventricular zone morphology ( J:166617 )

• ganglionic eminences are hyperplastic compared to in wild-type mice

Genotype
MGI:3579861

cx3

• 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:3580106

cx4

• Allelic Composition: Emx2^tm1Sia/Emx2^tm1Sia; Otx1^tm1Sia/Otx1^tm1Sia
• Genetic Background: involves: C57BL/6 * CBA

nervous system

abnormal pretectal region morphology ( J:98539 )

• development of the pretectum was meager at E18.5 and E12.5

abnormal forebrain morphology ( J:98539 )

• exhibited forebrain defects similar to but milder than the homozygous Emx2 heterozygous Otx2 double mutants

small thalamus ( J:98539 )

• development of prethalamus and thalamus was meager at E18.5 and E12.5

abnormal telencephalon morphology ( J:98539 )

• the telencephalon was smaller, but the choroid plexus developed normally

abnormal hippocampus morphology ( J:98539 )

• the hippocampal field developed poorly at E18.5 and E12.5

abnormal Ammon gyrus morphology ( J:98539 )

• Ammon's horn was deformed

abnormal cerebral cortex morphology ( J:98539 )

• great reduction in the medial pallium

Genotype
MGI:3696381

cx5

• 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

Genotype
MGI:3047002

cx6

• Allelic Composition: Otx1^tm1Sia/Otx1^tm1Sia; Otx2^tm5Sia/Otx2^tm5Sia
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

nervous system

abnormal brain development ( J:91011 )

• midbrain and forebrain development is impaired however the telencephalon appears normal

• the Fgf8 positive isthmic stripe is absent

absent midbrain ( J:91011 )

• the mesencephalon is almost completely absent

absent diencephalon ( J:91011 )

• the diencephalon is almost completely absent

Genotype
MGI:5608501

cx7

• Allelic Composition: Otx1^tm1Sia/Otx1^tm1Sia; Otx2^tm10Sia/Otx2^tm10Sia
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

nervous system

abnormal embryonic neuroepithelium morphology ( J:207608 )

• diencephalic and mesencephalic regions are reduced

• no significant enhancement of the phenotype compared to mice for homozygous for Otx2^tm10Sia alone

embryo

abnormal embryonic neuroepithelium morphology ( J:207608 )

• diencephalic and mesencephalic regions are reduced

• no significant enhancement of the phenotype compared to mice for homozygous for Otx2^tm10Sia alone

Genotype
MGI:3580108

cx8

• Allelic Composition: Emx1^tm1Sia/Emx1^tm1Sia; Otx1^tm1Sia/Otx1^tm1Sia
• Genetic Background: Not Specified

nervous system

nervous system phenotype ( J:98539 )

N • do not exhibit defects in the forebrain at E12.5