Phenotypes Associated with This Genotype

Genotype
MGI:6507151

• Allelic Composition: Tuba1a^em1Rstot/Tuba1a^em1Rstot
• Genetic Background: involves: C57BL/6J * C57BL/6N

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

mortality/aging

preweaning lethality, complete penetrance ( J:278765 )

• homozygotes are present at E18.5 but all are lost by weaning

nervous system

abnormal telencephalon development ( J:278765 )

abnormal cortical intermediate zone morphology ( J:278765 )

• 50% reduction in size at E16.5

abnormal cortical plate morphology ( J:278765 )

• 30% reduction in the width at E16.5

increased cortical ventricular zone thickness ( J:278765 )

• increased width at E16.5

enlarged lateral ventricles ( J:278765 )

abnormal third ventricle morphology ( J:278765 )

• widened base in posterior brain regions

enlarged third ventricle ( J:278765 )

abnormal basal ganglion morphology ( J:278765 )

• reduced basal ganglia

abnormal neuron physiology ( J:278765 )

• EdU labeling indicates a failure of neurons born at E13.5 to fully survive, differentiate and/or migrate towards the pial surface

increased neuronal precursor proliferation ( J:278765 )

• increase in the proportion of cells that re-enter the cell cycle at E13.5

homeostasis/metabolism

edema ( J:278765 )

• thoracic edema

cardiovascular system

hemorrhage ( J:278765 )

• hemorrhage in the cervical region extending towards the forelimbs

craniofacial

cleft palate ( J:278765 )

• in 3 of 11 embryos

skeleton

abnormal spine curvature ( J:278765 )

• thoracic curvature

cellular

increased neuronal precursor proliferation ( J:278765 )

• increase in the proportion of cells that re-enter the cell cycle at E13.5

growth/size/body

cleft palate ( J:278765 )

• in 3 of 11 embryos

digestive/alimentary system

cleft palate ( J:278765 )

• in 3 of 11 embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital nervous system abnormality		DOID:2490		J:278765