Phenotypes Associated with This Genotype

Genotype
MGI:6119480

• Allelic Composition: Tubb5^tm1.1Dak/Tubb5^tm1.1Dak; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

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

nervous system

increased neuron apoptosis ( J:240157 )

• at E14.5

decreased brain size ( J:240157 )

• with reduced cortex volume

decreased corpus callosum size ( J:240157 )

• reduced volume

abnormal putamen morphology ( J:240157 )

• reduced volume

small thalamus ( J:240157 )

• reduced volume

small hippocampus ( J:240157 )

• reduced volume

thin cerebral cortex ( J:240157 )

• at P0 and severely reduced in adulthood

• however, cortex thickness is normal at E12.5, E14.5 and E16.5

small olfactory bulb ( J:240157 )

• reduced volume

abnormal cerebellar layer morphology ( J:240157 )

• loss of upper neuronal layer

• however, cortical architecture is preserved

small cerebellum ( J:240157 )

• reduced volume

abnormal neuron morphology ( J:240157 )

• ectopic neuronal progenitors with an increased percentage of vertically oriented spindles at E14.5

cellular

abnormal mitosis ( J:240157 )

• prolonged M phase in neuronal progenitors at E14.5 with abnormal chromosome elements

abnormal mitotic spindle morphology ( J:240157 )

• increased percentage of vertically oriented spindles in neuronal progenitors at E14.5

increased neuron apoptosis ( J:240157 )

• at E14.5

growth/size/body

microcephaly ( J:240157 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
microcephaly		DOID:10907		J:240157