Phenotypes Associated with This Genotype

Genotype
MGI:8272221

• Allelic Composition: Ddx3x^tm1.1Dlsi/Ddx3x⁺; Emx1^tm1(cre)Krj/Emx1⁺
• Genetic Background: involves: 129 * 129S2/SvPas * C57BL/6J * C57BL/6N

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

nervous system

increased radial glial cell number ( J:376178 )

♀ • the number of SOX2+ radial glial cells is increased at E14.5, both in total numbers and as a percentage of all cells, indicating an increase in progenitor number in the developing cortex

♀ • however, the number of TBR2+ intermediate progenitors is not different and no significant differences in the percentage of deep layer neurons or in upper layer neurons in cortices are seen

decreased brain size ( J:376178 )

♀ • mild reduction in brain size of P0 females

abnormal cerebral cortex morphology ( J:376178 )

♀ • mice exhibit a mild 6% reduction in cortical area, indicating a mild microcephaly

♀ • however, cortical area is normal at E11.5, E14.5, and E16.5 and apoptosis is not apparent in cortices at any stage assessed

growth/size/body

microcephaly ( J:376178 )

♀ • mild

cellular

increased radial glial cell number ( J:376178 )

♀ • the number of SOX2+ radial glial cells is increased at E14.5, both in total numbers and as a percentage of all cells, indicating an increase in progenitor number in the developing cortex

♀ • however, the number of TBR2+ intermediate progenitors is not different and no significant differences in the percentage of deep layer neurons or in upper layer neurons in cortices are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
syndromic X-linked intellectual developmental disorder, Snijders Blok type		DOID:0070777	OMIM:300958	J:376178