Phenotypes associated with this allele

• Allele Symbol: Otx2^tm4Sia
• Allele Name: targeted mutation 4, Shinichi Aizawa
• Allele ID: MGI:2178747
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Otx2^tm4Sia/Otx2^tm4Sia	involves: C57BL/6 * CBA	MGI:2178997
ht2	Otx2^tm1Sia/Otx2^tm4Sia	involves: C57BL/6 * CBA	MGI:2178998

Genotype
MGI:2178997

hm1

• Allelic Composition: Otx2^tm4Sia/Otx2^tm4Sia
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:74631 )

• animals die at birth or by weaning

postnatal lethality, complete penetrance ( J:74631 )

• animals die at birth or by weaning

Genotype
MGI:2178998

ht2

• Allelic Composition: Otx2^tm1Sia/Otx2^tm4Sia
• Genetic Background: involves: C57BL/6 * CBA

embryo

embryo phenotype ( J:74631 )

N • anterior visceral endoderm (AVE) and anterior definitive endoderm (ADE) form normally in mutants

N • anterior axial mesendoderm functions normally in mutants

open neural tube ( J:74631 )

• at 10.5 dpc, neural tube has failed to close

craniofacial

abnormal cranium morphology ( J:74631 )

• most skull elements in premandibular and distal components of mandibular regions develop although morphology is distorted

skeleton

abnormal cranium morphology ( J:74631 )

• most skull elements in premandibular and distal components of mandibular regions develop although morphology is distorted

nervous system

abnormal midbrain morphology ( J:74631 )

• the mesencephalon is malformed

absent diencephalon ( J:74631 )

• at 10.5 dpc, absence of diencephalon is noted

abnormal metencephalon morphology ( J:74631 )

• the rostral portion of metencephalic regions, including the isthmus, appears to be malformed

abnormal nervous system development ( J:74631 )

• neural plate loses competence to inductive signals from anterior neural ridge

open neural tube ( J:74631 )

• at 10.5 dpc, neural tube has failed to close

abnormal brain development ( J:74631 )

• at 10.5 dpc, rostral aspect of brain appears truncated

• majority of rostral brain fails to develop normally at 10.5 days post-coitum (dpc)

absent embryonic telencephalon ( J:74631 )

• at 10.5 dpc, absence of telencephalic vesicles is noted

abnormal midbrain-hindbrain boundary morphology ( J:74631 )

• the isthmus appears to be malformed

anencephaly ( J:74631 )

• at E18.5 all embryos exhibit exencephaly or anencephaly

exencephaly ( J:74631 )

• at E18.5 all embryos exhibit exencephaly or anencephaly