Phenotypes Associated with This Genotype

Genotype
MGI:2172525

• Allelic Composition: Emx2^tm1Sia/Emx2^tm1Sia; Otx2^tm1Sia/Otx2⁺
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:70745 )

• none survive beyond E16.5

nervous system

abnormal olfactory sensory neuron morphology ( J:70745 )

• olfactory neurons do not project to the olfactory bulb, rather the nerve fibers are tangled outside the bulb

abnormal midbrain-hindbrain boundary morphology ( J:70745 )

• isthmic constriction is shifted rostrally

absent choroid plexus ( J:70745 , J:98539 )

• the choroid plexus does not develop in the third ventricle at E15.5 (J:70745)

• choroid plexus fails to develop at E12.5 (J:98539)

abnormal posterior commissure morphology ( J:70745 )

• the posterior commissure is located proximal to the sulcus telodiencephalicus and is reduced in size and poorly fasciculated

abnormal anterior commissure morphology ( J:70745 )

• exhibit no axonal fasciculation of the anterior commissure

abnormal midbrain morphology ( J:70745 )

• anterior boundary of the mesencephalon is poorly differentiated

enlarged tectum ( J:70745 )

• the tectum is greatly enlarged occupying the original epithalamus and pretectum regions

abnormal pretectal region morphology ( J:70745 )

• the anterior pretectum is not apparent

abnormal forebrain morphology ( J:70745 )

• severe defects in dorsal forebrain

abnormal adenohypophysis morphology ( J:70745 )

• the adenohypophysis (the anterior glandular lobe) is irregularly shaped

abnormal forebrain development ( J:163926 )

• the thalamic eminence, ventral thalamus (prethalamus), dorsal thalamus (thalamus), and noncommissure regions of the pretectum fail to develop unlike in wild-type mice

abnormal thalamus morphology ( J:70745 )

• prethalamus and the dorsal and ventral thalamus are not apparent

abnormal telencephalon morphology ( J:70745 , J:98539 )

• cerebral hemispheres are greatly diminished in the telencephalon (J:70745)

• at E12.5, the telencephalon is small and diminished, particularly in the dorsomedial aspect, resulting in an enlarged and exposed telencephalic roof (J:70745)

• evagination of the the medial telencephalic pallium beyond the sulcus telodiencephalicus is poor (J:70745)

• eminentia thalami fails to develop at E12.5, however the rostral forebrain territory of ganglionic eminences, neopallium and commissural plate develop (J:98539)

• the choroidal roof at the telencephalic level fails to develop at E12.5 (J:98539)

abnormal corpus callosum morphology ( J:70745 )

• exhibit no axonal fasciculation of the corpus callosum

abnormal Ammon gyrus morphology ( J:70745 )

• Ammon's horn is not apparent at E12.5

absent dentate gyrus ( J:70745 )

• dentate gyrus is not formed at E15.5

absent hippocampal fimbria ( J:70745 )

• the fimbria are not formed at E15.5

• exhibit no axonal fasciculation of the fimbria

abnormal hippocampal fornix morphology ( J:70745 )

• exhibit no axonal fasciculation of the fornix

abnormal hippocampus region morphology ( J:70745 )

• the CA fields are not formed at E15.5

absent hippocampus ( J:70745 , J:98539 )

• hippocampal structures are entirely absent at E15.5 (J:70745)

• prospective hippocampus is absent at E12.5 (J:98539)

abnormal cerebral cortex morphology ( J:70745 , J:98539 )

• the neopallium is reduced with a disorganized laminar structure and the cortical plate is hardly visible (J:70745)

• the choroidal roof is expanded (J:70745)

• the archipallium and cortical hem fail to develop at E12.5 (J:98539)

abnormal olfactory bulb mitral cell layer morphology ( J:70745 )

• mitral cell layers are absent

small olfactory bulb ( J:70745 )

• small olfactory bulb that lacks the layered structure at E12.5

abnormal lateral ganglionic eminence morphology ( J:70745 )

• hyperplastic

abnormal medial ganglionic eminence morphology ( J:70745 )

• hyperplastic

endocrine/exocrine glands

abnormal adenohypophysis morphology ( J:70745 )

• the adenohypophysis (the anterior glandular lobe) is irregularly shaped

vision/eye

abnormal lens morphology ( J:70745 )

• irregularly shaped lenses

retina hyperplasia ( J:70745 )

• outer/inner layers of the retina are hyperplastic

craniofacial

abnormal olfactory sensory neuron morphology ( J:70745 )

• olfactory neurons do not project to the olfactory bulb, rather the nerve fibers are tangled outside the bulb

respiratory system

abnormal olfactory sensory neuron morphology ( J:70745 )

• olfactory neurons do not project to the olfactory bulb, rather the nerve fibers are tangled outside the bulb

taste/olfaction

abnormal olfactory sensory neuron morphology ( J:70745 )

• olfactory neurons do not project to the olfactory bulb, rather the nerve fibers are tangled outside the bulb

growth/size/body

abnormal olfactory sensory neuron morphology ( J:70745 )

• olfactory neurons do not project to the olfactory bulb, rather the nerve fibers are tangled outside the bulb