Phenotypes Associated with This Genotype

Genotype
MGI:5753081

• Allelic Composition: Aspm^tm1(cre)Mrc/Aspm^tm1(cre)Mrc
• Genetic Background: Not Specified

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

cellular

abnormal cell cycle ( J:228026 )

• neural progenitor cells exhibit elongated cell cycle length, with a delay in progression through S- and G2/M-phases and significant lengthening of the G1 only in late (E16.5) cells

• the transition through the G1-R point is postponed

growth/size/body

microcephaly ( J:228026 )

• fully penetrant 20% smaller wet brain weight as embryos and continuing throughout life, particularly a reduction in cortical dimension

nervous system

abnormal brain development ( J:228026 )

• extended corticogenesis

• neural progenitor cells carry out more P-N asymmetric-neurogenic divisions in young E12.5 embryos and more N-N symmetric-neurogenic divisions in older E14.5 embryos, always at the expense of P-P symmetric-proliferative divisions

• cortices at E18.5 show delayed astrogenesis

decreased brain weight ( J:228026 )

• 20% smaller wet brain weight

thin cerebral cortex ( J:228026 )

• adults show thinning of the cortex stemming from a reduction of the superficial, later born layers II-IV and a corresponding increase in older and deeper layer VI cells

abnormal astrocyte morphology ( J:228026 )

• cortices at E18.5 show delayed astrogenesis

• astrocyte progenitors, RC2+ radial glia cells, show disturbed fiber alignment and fewer immature GFAP+ astrocytes are seen

decreased neuronal precursor cell number ( J:228026 )

• progressive reduction of neural progenitor cell compartment at mid-to-late corticogenesis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
microcephaly		DOID:10907		J:228026