Phenotypes Associated with This Genotype

Genotype
MGI:3693287

• Allelic Composition: Zfp423^nur12/Zfp423^nur12
• Genetic Background: involves: BALB/c * C57BL/6 * C3H

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

Ataxia and malformation in Zfp423^nur12/Zfp423^nur12 mice

behavior/neurological

tremors ( J:114758 )

ataxia ( J:114758 )

nervous system

dilated fourth ventricle ( J:114758 )

abnormal choroid plexus morphology ( J:114758 )

• reduced choroids plexus of the 4th ventricle

abnormal telencephalon morphology ( J:114758 )

dilated lateral ventricle ( J:114758 )

absent corpus callosum ( J:114758 )

abnormal hippocampus morphology ( J:114758 )

• reduced hippocampal formations

abnormal cerebellum morphology ( J:114758 )

• malformed

• pronounced anterior rotation of the cerebellum in the posterior fossa

• decreased cell proliferation in the germinal zones of the cerebellum

abnormal cerebellar cortex morphology ( J:114758 )

• Bergman glia fail to infiltrate the cerebellar cortex

• radial glial fibers found at lower densities than in controls

cerebellum vermis hypoplasia ( J:114758 )

• evident by E15.5

growth/size/body

decreased body weight ( J:114758 )

• P14 mutants show reduced weight gain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cerebellar disease		DOID:2786		J:114758
Dandy-Walker syndrome		DOID:2785	OMIM:220200	J:114758