Phenotypes associated with this allele

• Allele Symbol: Emx2^tm1Pgr
• Allele Name: targeted mutation 1, Peter Gruss
• Allele ID: MGI:2148858
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Emx2^tm1Pgr/Emx2^tm1Pgr	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2673713
ht2	Emx2^tm1Pgr/Emx2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3039405
ht3	Emx2^Pdo/Emx2^tm1Pgr	involves: 129S1/Sv * 129X1/SvJ * BALB/c * C3H/HeN * C57BL/6	MGI:3039367

Genotype
MGI:2673713

hm1

• Allelic Composition: Emx2^tm1Pgr/Emx2^tm1Pgr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:37631 )

• homozygous animals die shortly after birth

renal/urinary system

absent kidney ( J:37631 )

nervous system

abnormal lateral ventricle morphology ( J:37631 )

• wall of lateral ventricle is shortened; large communication between the two lateral ventricles and the third ventricle

dilated third ventricle ( J:37631 )

• dilation of the choroid plexus of the third ventricle; large communication between the two lateral ventricles and the third ventricle

decreased anterior commissure size ( J:37631 )

• thinner/distorted anterior commissure

abnormal cerebral hemisphere morphology ( J:37631 )

• reduced size of cerebral hemispheres

decreased corpus callosum size ( J:37631 )

• reduced corpus calosum

abnormal Ammon gyrus morphology ( J:37631 )

• reduced size of Ammon's horn

absent dentate gyrus ( J:37631 )

abnormal hippocampal fimbria morphology ( J:37631 )

• severely reduced fimbria

decreased hippocampal fornix size ( J:37631 )

• severely reduced fornix; commissural component of the fornix (hippocampal commisure) was absent or greatly reduced

abnormal cerebral cortex morphology ( J:37631 )

• abnormal cortical structure; alterations of the allocortical structures of the medial wall; medial limbic cortex is reduced

small olfactory bulb ( J:37631 )

• reduced size of the olfactory bulbs

Genotype
MGI:3039405

ht2

• Allelic Composition: Emx2^tm1Pgr/Emx2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

hearing/vestibular/ear

absent incus ( J:37631 , J:89093 )

abnormal malleus morphology ( J:89093 )

• absence of the articulatory surface for the incus

abnormal stapes morphology ( J:37631 )

increased cochlear inner hair cell number ( J:89093 )

• the inner hair cells were disorganized with an increased number of cells noted

increased cochlear outer hair cell number ( J:89093 )

• four rows of outer hair cells were present instead of three; a patchy arrangement was also noted

skeleton

absent incus ( J:37631 , J:89093 )

abnormal malleus morphology ( J:89093 )

• absence of the articulatory surface for the incus

abnormal stapes morphology ( J:37631 )

abnormal incudomalleolar joint morphology ( J:37631 )

• defects in the articulation between the incus and malleus; however, the ossicular chain did not appear to be affected

nervous system

increased cochlear inner hair cell number ( J:89093 )

• the inner hair cells were disorganized with an increased number of cells noted

increased cochlear outer hair cell number ( J:89093 )

• four rows of outer hair cells were present instead of three; a patchy arrangement was also noted

craniofacial

absent incus ( J:37631 , J:89093 )

abnormal malleus morphology ( J:89093 )

• absence of the articulatory surface for the incus

abnormal stapes morphology ( J:37631 )

Genotype
MGI:3039367

ht3

• Allelic Composition: Emx2^Pdo/Emx2^tm1Pgr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C3H/HeN * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:89093 )

• homozygous animals die shortly after birth

hearing/vestibular/ear

absent incus ( J:89093 )

renal/urinary system

small kidney ( J:89093 )

• reduced size of either the left or right kidney

skeleton

absent incus ( J:89093 )

craniofacial

absent incus ( J:89093 )