Phenotypes Associated with This Genotype

Genotype
MGI:4359205

• Allelic Composition: Arx^tm2Kki/Y
• Genetic Background: involves: 129S/SvEv * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:152416 )

♂ • mice die within 1 day of birth

nervous system

abnormal neuronal migration ( J:152416 )

♂ • GABAergic progenitor cells migration is delayed until E14.5 whereas migration in wild-type mice occurs at E12.5

♂ • only 29% of the Arx+ GABAergic cells that migrate in wild-type mice reach the cortical plate by P0

♂ • radial and tangential migration of GABAergic neurons is impaired compared to in wild-type mice

thin cortical plate ( J:152416 )

♂

decreased brain size ( J:152416 )

♂

abnormal ventral striatum morphology ( J:152416 )

♂ • unlike in wild-type mice, SST+ GABAergic interneurons accumulate in the subventricular zone of the ventral striatum (around the nucleus accumbens) whereas no SST+ cells are detected in the mantle zone of the striatum

small olfactory bulb ( J:152416 )

♂

abnormal postnatal subventricular zone morphology ( J:152416 )

♂ • at P0, the Arx+ MAP2- ventricular and subventricular zones of the striatum are thicker than in wild-type mice

♂ • unlike in wild-type mice, SST+ GABAergic interneurons accumulate in the subventricular zone of the ventral striatum (around the nucleus accumbens) whereas no SST+ cells are detected in the mantle zone of the striatum

cellular

abnormal neuronal migration ( J:152416 )

♂ • GABAergic progenitor cells migration is delayed until E14.5 whereas migration in wild-type mice occurs at E12.5

♂ • only 29% of the Arx+ GABAergic cells that migrate in wild-type mice reach the cortical plate by P0

♂ • radial and tangential migration of GABAergic neurons is impaired compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lissencephaly		DOID:0050453	OMIM:PS607432	J:197588