Phenotypes Associated with This Genotype

Genotype
MGI:4460825

• Allelic Composition: Cdk5rap2^an/Cdk5rap2^an
• Genetic Background: B6.Cg-Cdk5rap2^an

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

mortality/aging

premature death ( J:160533 )

• die within one week of age

growth/size/body

microcephaly ( J:160533 )

• Background Sensitivity: homozygotes show modest microcephaly on a WBB6F1 background, but more severe on a C57BL/6J congenic background

decreased body size ( J:160533 )

• reduced body size at E12.5

• runted

nervous system

increased neuron apoptosis ( J:160533 )

• premature cell cycle exit and increased cell death

abnormal neuron proliferation ( J:160533 )

• cortical neurons divide less

abnormal forebrain development ( J:160533 )

• profound reduction of basal progenitors at later stages in neurogenesis

decreased brain size ( J:160533 )

• reduced brain size at E12.5,

• brain-to-body weight ratio at P0 is decreased

enlarged brain ventricles ( J:160533 )

• enlarged ventricle

small hippocampus ( J:160533 )

• at P0 the hippocampus is smaller than wild-type

abnormal cerebral cortex morphology ( J:160533 )

• disproportionately reduced cortex

loss of cortex neurons ( J:160533 )

• have fewer total neurons and the last-born superficial neurons are particularly reduced

thin cerebral cortex ( J:160533 )

small olfactory bulb ( J:160533 )

abnormal embryonic/fetal subventricular zone morphology ( J:160533 )

• reduced ganglionic eminence

cellular

abnormal mitosis ( J:160533 )

abnormal mitotic spindle morphology ( J:160533 )

• defective mitotic spindle orientation

increased neuron apoptosis ( J:160533 )

• premature cell cycle exit and increased cell death

abnormal neuron proliferation ( J:160533 )

• cortical neurons divide less

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
microcephaly		DOID:10907		J:160533