Phenotypes Associated with This Genotype

Genotype
MGI:5522833

• Allelic Composition: Tubb2b^brdp/Tubb2b^brdp
• Genetic Background: involves: A/J * FVB

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

mortality/aging

prenatal lethality, complete penetrance ( J:201099 )

• mice do not survive birth

respiratory system

respiratory distress ( J:201099 )

• some mice are gasping at P0

nervous system

increased neuron apoptosis ( J:201099 )

• slightly in the cortex and striatum at E14.5

• in the cortex and striatum at E16.5

• at E18.5

abnormal neuronal precursor proliferation ( J:201099 )

• increased at E14.5

• modest in the ventricular zone and more so away from the ventricular zone

decreased midbrain size ( J:201099 )

• at E18.5

enlarged brain ventricles ( J:201099 )

• at E18.5

abnormal choroid plexus morphology ( J:201099 )

• reduced at E18.5

absent anterior commissure ( J:201099 )

abnormal brain internal capsule morphology ( J:201099 )

• reduced striatal axons leading to and forming the internal capsule

abnormal basal ganglion morphology ( J:201099 )

• reduced at E11.5 (slightly), E14.5 (increasing severity in the caudal portion), E16.5 (more severe in the posterior region) and E18.5

abnormal telencephalon morphology ( J:201099 )

• reduced neuroepithelium thickness in the caudolateral telencephalon at E18.5

abnormal cortical plate morphology ( J:201099 )

• wave-like perturbation in the cerebral cortex at E18.5

absent corpus callosum ( J:201099 )

abnormal cerebral cortex morphology ( J:201099 )

• hypoplastic, irregular ventricular zone at E18.5

thin cerebral cortex ( J:201099 )

• at E16.5 (more severe in the posterior region) and E18.5

small olfactory bulb ( J:201099 )

• at E18.5

small cerebellum ( J:201099 )

• at E18.5

craniofacial

short snout ( J:201099 )

• slightly at E18.5

cellular

increased neuron apoptosis ( J:201099 )

• slightly in the cortex and striatum at E14.5

• in the cortex and striatum at E16.5

• at E18.5

abnormal neuronal precursor proliferation ( J:201099 )

• increased at E14.5

• modest in the ventricular zone and more so away from the ventricular zone

growth/size/body

short snout ( J:201099 )

• slightly at E18.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
complex cortical dysplasia with other brain malformations 7		DOID:0090132	OMIM:610031	J:201099