Phenotypes associated with this allele

• Allele Symbol: Otx2^tm2(Otx1)Sia
• Allele Name: targeted mutation 2, Shinichi Aizawa
• Allele ID: MGI:2153203
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Otx2^tm2(Otx1)Sia/Otx2^tm2(Otx1)Sia	involves: C57BL/6 * CBA	MGI:3696375
ht2	Otx2^tm2(Otx1)Sia/Otx2^+	involves: C57BL/6 * CBA	MGI:3696380
cx3	Otx1^tm1Sia/Otx1^+ Otx2^tm2(Otx1)Sia/Otx2^+	involves: C57BL/6 * CBA	MGI:3696381

Genotype
MGI:3696375

hm1

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

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

mortality/aging

neonatal lethality, complete penetrance ( J:51989 )

• are born live but do not survive

vision/eye

anophthalmia ( J:51989 )

• eyes never form

craniofacial

small mandible ( J:51989 )

• small mandible

absent maxilla ( J:51989 )

• absent maxillary bone

otocephaly ( J:51989 )

• severe otocephaly

nervous system

absent pituitary gland ( J:51989 )

• hypophysis never forms

abnormal brain development ( J:51989 )

• rostral brain fails to develop at E7.5; some fetuses lack the rostral head, while most develop some rostral structures

• however, exhibit normal rostral neuroectoderm induction at E7.5 and normal development of the isthmus and rhombomeres 1/2

abnormal forebrain development ( J:51989 )

• marker analysis shows loss of dorsal forebrain at E8.5

abnormal midbrain development ( J:51989 )

• marker analysis shows defects in the midbrain

absent olfactory bulb ( J:51989 )

• olfactory bulbs never form

skeleton

small mandible ( J:51989 )

• small mandible

absent maxilla ( J:51989 )

• absent maxillary bone

endocrine/exocrine glands

absent pituitary gland ( J:51989 )

• hypophysis never forms

embryo

embryo phenotype ( J:51989 )

N • normal gastrulation

growth/size/body

otocephaly ( J:51989 )

• severe otocephaly

Genotype
MGI:3696380

ht2

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

craniofacial

craniofacial phenotype ( J:51989 )

N • craniofacial defects are largely restored by Otx1 expression; 86% are normal and none show acephaly

abnormal mandible morphology ( J:51989 )

• 3% have defects in the lower jaw

skeleton

abnormal mandible morphology ( J:51989 )

• 3% have defects in the lower jaw

vision/eye

abnormal eye morphology ( J:51989 )

• 3% have defects in the eyes

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