Phenotypes associated with this allele

• Allele Symbol: Emx2^tm1Sia
• Allele Name: targeted mutation 1, Shinichi Aizawa
• Allele ID: MGI:2136350
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Emx2^tm1Sia/Emx2^tm1Sia	involves: C57BL/6 * CBA	MGI:2182343
cx2	Emx2^tm1Sia/Emx2^+ Otx2^tm1Sia/Otx2^+	involves: C57BL/6 * CBA	MGI:3624427
cx3	Emx1^tm1Sia/Emx1^tm1Sia Emx2^tm1Sia/Emx2^+	involves: C57BL/6 * CBA	MGI:4830718
cx4	Emx2^tm1Sia/Emx2^tm1Sia Otx2^tm1Sia/Otx2^+	involves: C57BL/6 * CBA	MGI:2172525
cx5	Emx1^tm1Sia/Emx1^tm1Sia Emx2^tm1Sia/Emx2^tm1Sia	involves: C57BL/6 * CBA	MGI:2182344
cx6	Emx2^tm1Sia/Emx2^tm1Sia Otx1^tm1Sia/Otx1^tm1Sia	involves: C57BL/6 * CBA	MGI:3580106
cx7	Emx2^tm1Sia/Emx2^tm1Sia Pax6^Sey/Pax6^Sey	involves: C57BL/6 * CBA	MGI:3580109
cx8	Emx2^tm1Sia/Emx2^tm1Sia Otx2^tm7Sia/Otx2^tm7Sia	involves: C57BL/6NCrlj * CBA/JNCrlj	MGI:3056075

Genotype
MGI:2182343

hm1

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

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

mortality/aging

neonatal lethality, complete penetrance ( J:40605 )

• both sexes die soon after birth due to failure of urogenital system development

embryo

increased metanephric mesenchyme apoptosis ( J:40605 )

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

gonadal ridge hypoplasia ( J:40605 )

• 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

absent Mullerian ducts ( J:40605 )

• Mullerian ducts are absent at E13

Wolffian duct degeneration ( J:40605 )

• Wolffian ducts degenerate at E11.5

reproductive system

absent seminal vesicle ( J:40605 )

♂

absent oviduct ( J:40605 )

♀

absent uterus ( J:40605 )

♀

absent cranial vagina ( J:40605 )

♀

absent internal female genitalia ( J:40605 )

♀ • at E16.5

absent efferent ductules of testis ( J:40605 )

♂

absent epididymis ( J:40605 )

♂

absent vas deferens ( J:40605 )

♂

absent internal male genitalia ( J:40605 )

♂ • at E16.5

abnormal primary sex determination ( J:40605 )

agonadal ( J:40605 )

• at E16.5, gonads are absent in both sexes

absent ovary ( J:40605 )

♀

absent testes ( J:40605 )

♂

renal/urinary system

abnormal kidney development ( J:40605 )

• kidney development is arrested following ureter budding and invasion of the metanephric mesenchyme

abnormal metanephric mesenchyme morphology ( J:40605 )

• 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

increased metanephric mesenchyme apoptosis ( J:40605 )

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

abnormal metanephric ureteric bud development ( J:40605 )

• the invading ureteric bud begins to degenerate at E12.5 and disappears in the metanephric blastema by E13.0, unlike in wild-type embryos

absent kidney ( J:40605 )

• at E16.5, kidneys are absent in both sexes

• however, adrenal glands and bladder develop normally

absent ureter ( J:40605 )

• at E16.5, ureters are absent in both sexes

impaired branching involved in ureteric bud morphogenesis ( J:40605 )

• at E12.5 and E13.5, no branching of the ureteric bud is observed,unlike in wild-type embryos

abnormal ureteric bud tip morphology ( J:40605 )

• 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

absent seminal vesicle ( J:40605 )

♂

agonadal ( J:40605 )

• at E16.5, gonads are absent in both sexes

absent ovary ( J:40605 )

♀

absent testes ( J:40605 )

♂

nervous system

abnormal pallium development ( J:163926 )

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

absent dentate gyrus ( J:163926 )

cellular

increased metanephric mesenchyme apoptosis ( J:40605 )

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

Genotype
MGI:3624427

cx2

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

nervous system

abnormal forebrain morphology ( J:70745 )

• display defects in forebrain structures similar to, but significantly milder than, homozygous Emx2 and heterozygous Otx2 double mutants

Genotype
MGI:4830718

cx3

• Allelic Composition: Emx1^tm1Sia/Emx1^tm1Sia; Emx2^tm1Sia/Emx2⁺
• Genetic Background: involves: C57BL/6 * CBA

nervous system

abnormal cerebral cortex morphology ( J:163926 )

• interneurons are scarce in the cortex due to a failure of their tangential migration compared to in wild-type mice

abnormal embryonic/fetal subventricular zone morphology ( J:163926 )

• failure of interneurons to migrate into the cortex leads to hyperplasia of ganglionic eminences compared to in wild-type mice

Genotype
MGI:2172525

cx4

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

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

Genotype
MGI:2182344

cx5

• Allelic Composition: Emx1^tm1Sia/Emx1^tm1Sia; Emx2^tm1Sia/Emx2^tm1Sia
• Genetic Background: involves: C57BL/6 * CBA

nervous system

abnormal pallium development ( J:163926 )

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

absent dentate gyrus ( J:163926 )

absent hippocampal fimbria ( J:163926 )

absent hippocampus ( J:163926 )

Genotype
MGI:3580106

cx6

• Allelic Composition: Emx2^tm1Sia/Emx2^tm1Sia; Otx1^tm1Sia/Otx1^tm1Sia
• Genetic Background: involves: C57BL/6 * CBA

nervous system

abnormal pretectal region morphology ( J:98539 )

• development of the pretectum was meager at E18.5 and E12.5

abnormal forebrain morphology ( J:98539 )

• exhibited forebrain defects similar to but milder than the homozygous Emx2 heterozygous Otx2 double mutants

small thalamus ( J:98539 )

• development of prethalamus and thalamus was meager at E18.5 and E12.5

abnormal telencephalon morphology ( J:98539 )

• the telencephalon was smaller, but the choroid plexus developed normally

abnormal hippocampus morphology ( J:98539 )

• the hippocampal field developed poorly at E18.5 and E12.5

abnormal Ammon gyrus morphology ( J:98539 )

• Ammon's horn was deformed

abnormal cerebral cortex morphology ( J:98539 )

• great reduction in the medial pallium

Genotype
MGI:3580109

cx7

• Allelic Composition: Emx2^tm1Sia/Emx2^tm1Sia; Pax6^Sey/Pax6^Sey
• Genetic Background: involves: C57BL/6 * CBA

nervous system

abnormal brain morphology ( J:98539 )

• an amorphous structure was present where normally the thalamus/pretectum develops at E12.5

• the supraopto-paraventricular area was lost at E12.5

absent choroid plexus ( J:98539 )

• choroid plexus was never apparent at E12.5

abnormal brain commissure morphology ( J:98539 )

• the commissural plate was caudally expanded

abnormal tectum morphology ( J:98539 )

• mirror image duplication of tectum at E18.5, however duplication of the cerebellum or tegmentum did not occur

abnormal pretectal region morphology ( J:98539 )

• both the non-commissure region and the commissure region of the pretectum were absent at E12.5

abnormal thalamus morphology ( J:98539 )

• prethalamus and thalamus were not apparent at E12.5

• zona limitans intrathalamica was never formed

absent diencephalon ( J:98539 )

• diencephalic structures were not apparent at E12.5

abnormal telencephalon morphology ( J:98539 )

• the choroidal roof at the telencephalic level did not develop

abnormal Ammon gyrus morphology ( J:98539 )

• Ammon's horn did not develop at E12.5

absent hippocampus ( J:98539 )

• prospective hippocampus was absent at E12.5

abnormal cerebral cortex morphology ( J:98539 )

• 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

abnormal embryonic/fetal subventricular zone morphology ( J:98539 )

• hyperplastic ganglionic eminences

Genotype
MGI:3056075

cx8

• Allelic Composition: Emx2^tm1Sia/Emx2^tm1Sia; Otx2^tm7Sia/Otx2^tm7Sia
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

nervous system

absent diencephalon ( J:91012 )

• the diencephalon is lost