Phenotypes Associated with This Genotype

Genotype
MGI:3696375

• 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