Mouse Genome Informatics
hm1
    Emx2tm1Sia/Emx2tm1Sia
involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• both sexes die soon after birth due to failure of urogenital system development

embryogenesis
• at E11.5, thickening of coelomic epithelium is poor, gonadal cells are sparse, and the coelomic surface appears rough
• at E13.0, gonadal development is poor, unlike in wild-type embryos
• however, primordial germ cell migration to the genital ridge is normal at E11.5
• Mullerian ducts are absent at E13
• Wolffian ducts degenerate at E11.5

reproductive system
(J:40605)
(J:40605)
• at E16.5 (J:40605)
• at E16.5 (J:40605)
• at E16.5, gonads are absent in both sexes
(J:40605)
(J:40605)

renal/urinary system
• kidney development is arrested following ureter budding and invasion of the metanephric mesenchyme
• at E12.5 and E13.5, no epithelial transformation of the metanephric mesenchyme is observed, unlike in wild-type embryos
• no pretubular cell aggregates,comma- or S-shaped bodies are ever found
• at E12.5, the size of the metanephric blastema fails to increase and apoptotic cells are prominent in the remaining mesenchyme at E13.0
• the invading ureteric bud begins to degenerate at E12.5 and disappears in the metanephric blastema by E13.0, unlike in wild-type embryos
• at E16.5, kidneys are absent in both sexes
• however, adrenal glands and bladder develop normally
• at E16.5, ureters are absent in both sexes
• at E12.5 and E13.5, no branching of the ureteric bud is observed,unlike in wild-type embryos
• at E11.5, invasion of the ureteric bud into the metanephric blastema is observed but dilation of the tip of the ureteric bud is never seen, unlike in wild-type embryos

endocrine/exocrine glands
• at E16.5, gonads are absent in both sexes
(J:40605)
(J:40605)

nervous system
• mice exhibit a loss of the medial pallium compared with wild-type mice

cellular
• at E12.5, the size of the metanephric blastema fails to increase and apoptotic cells are prominent in the remaining mesenchyme at E13.0


Mouse Genome Informatics
cx2
    Emx2tm1Sia/Emx2tm1Sia
Otx2tm1Sia/Otx2+

involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

nervous system
• olfactory neurons do not project to the olfactory bulb, rather the nerve fibers are tangled outside the bulb
• isthmic constriction is shifted rostrally
• 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)
• the posterior commissure is located proximal to the sulcus telodiencephalicus and is reduced in size and poorly fasciculated
• exhibit no axonal fasciculation of the anterior commissure
• anterior boundary of the mesencephalon is poorly differentiated
• the tectum is greatly enlarged occupying the original epithalamus and pretectum regions
• the anterior pretectum is not apparent
• severe defects in dorsal forebrain
• the adenohypophysis (the anterior glandular lobe) is irregularly shaped
• the thalamic eminence, ventral thalamus (prethalamus), dorsal thalamus (thalamus), and noncommissure regions of the pretectum fail to develop unlike in wild-type mice
• prethalamus and the dorsal and ventral thalamus are not apparent
• 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)
• exhibit no axonal fasciculation of the corpus callosum
• Ammon's horn is not apparent at E12.5
• dentate gyrus is not formed at E15.5
• the fimbria are not formed at E15.5
• exhibit no axonal fasciculation of the fimbria
• exhibit no axonal fasciculation of the fornix
• the CA fields are not formed at E15.5
• hippocampal structures are entirely absent at E15.5 (J:70745)
• prospective hippocampus is absent at E12.5 (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)
• mitral cell layers are absent
• small olfactory bulb that lacks the layered structure at E12.5

endocrine/exocrine glands
• the adenohypophysis (the anterior glandular lobe) is irregularly shaped

vision/eye
• irregularly shaped lenses
• outer/inner layers of the retina are hyperplastic

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

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

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


Mouse Genome Informatics
cx3
    Emx1tm1Sia/Emx1tm1Sia
Emx2tm1Sia/Emx2tm1Sia

involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• mice exhibit a remarkable loss of the medial pallium compared with wild-type mice


Mouse Genome Informatics
cx4
    Emx2tm1Sia/Emx2tm1Sia
Otx2tm7Sia/Otx2tm7Sia

involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• the diencephalon is lost


Mouse Genome Informatics
cx5
    Emx2tm1Sia/Emx2tm1Sia
Otx1tm1Sia/Otx1tm1Sia

involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• development of the pretectum was meager at E18.5 and E12.5
• exhibited forebrain defects similar to but milder than the homozygous Emx2 heterozygous Otx2 double mutants
• development of prethalamus and thalamus was meager at E18.5 and E12.5
• the telencephalon was smaller, but the choroid plexus developed normally
• the hippocampal field developed poorly at E18.5 and E12.5
• Ammon's horn was deformed
• great reduction in the medial pallium


Mouse Genome Informatics
cx6
    Emx2tm1Sia/Emx2tm1Sia
Pax6Sey/Pax6Sey

involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• an amorphous structure was present where normally the thalamus/pretectum develops at E12.5
• the supraopto-paraventricular area was lost at E12.5
• choroid plexus was never apparent at E12.5
• the commissural plate was caudally expanded
• mirror image duplication of tectum at E18.5, however duplication of the cerebellum or tegmentum did not occur
• both the non-commissure region and the commissure region of the pretectum were absent at E12.5
• prethalamus and thalamus were not apparent at E12.5
• zona limitans intrathalamica was never formed
• diencephalic structures were not apparent at E12.5
• the choroidal roof at the telencephalic level did not develop
• Ammon's horn did not develop at E12.5
• prospective hippocampus was absent at E12.5
• greatly reduced pallium at E18.5 that was lost in the medial portion, greatly reduced but present neopallium at E12.5 and absent cortical hem at E12.5
• hyperplastic ganglionic eminences


Mouse Genome Informatics
cx7
    Emx2tm1Sia/Emx2+
Otx2tm1Sia/Otx2+

involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• display defects in forebrain structures similar to, but significantly milder than, homozygous Emx2 and heterozygous Otx2 double mutants


Mouse Genome Informatics
cx8
    Emx1tm1Sia/Emx1tm1Sia
Emx2tm1Sia/Emx2+

involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• interneurons are scarce in the cortex due to a failure of their tangential migration compared to in wild-type mice
• failure of interneurons to migrate into the cortex leads to hyperplasia of ganglionic eminences compared to in wild-type mice