Phenotypes Associated with This Genotype

Genotype
MGI:8209433

• Allelic Composition: Gt(ROSA)26Sor^{tm1(CAG-SETBP1*G870S,-EGFP)Ase}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

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

nervous system

abnormal neuron differentiation ( J:363042 )

• E14.5 embryos show slow development in the cortex, where apical radial glial cells (RGCs; SOX2+) tend to accumulate at the expense of committed intermediate neural progenitors (INPs; TBR2+) and early differentiating neurons (DCX+)

abnormal radial glial cell morphology ( J:363042 )

• cortical radial glial cells exhibit a simpler neuronal shape

increased radial glial cell number ( J:363042 )

• apical radial glial cells (RGCs; SOX2+) tend to accumulate in the cortex in E14.5 embryos

abnormal brain morphology ( J:363042 )

• P30 mice exhibit reduced brain structure (e.g. cortical wall)

abnormal brain ventricle morphology ( J:363042 )

• P30 mice exhibit increased ventricle volume

growth/size/body

microcephaly ( J:363042 )

• P30 mice exhibit microcephaly

cellular

abnormal neuron differentiation ( J:363042 )

• E14.5 embryos show slow development in the cortex, where apical radial glial cells (RGCs; SOX2+) tend to accumulate at the expense of committed intermediate neural progenitors (INPs; TBR2+) and early differentiating neurons (DCX+)

abnormal radial glial cell morphology ( J:363042 )

• cortical radial glial cells exhibit a simpler neuronal shape

increased radial glial cell number ( J:363042 )

• apical radial glial cells (RGCs; SOX2+) tend to accumulate in the cortex in E14.5 embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Schinzel Giedion syndrome		DOID:0070509	OMIM:269150	J:363042