Phenotypes Associated with This Genotype

Genotype
MGI:6120521

• Allelic Composition: Myo9a^tm1.2Bah/Myo9a^tm1.2Bah
• Genetic Background: involves: C57BL/6 * SJL

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

behavior/neurological

abnormal gait ( J:251454 )

• hopping and trembling

embryo

abnormal neural tube ventricular layer morphology ( J:251454 )

• disorganized ependymal cells lining ventral caudal 3rd ventricle

• absent ependymal cells lining ventral caudal 3rd ventricle in areas of ventricle closure

• undulated appearance: distorted overall outline of ependymal cells marked by adherens junctions, with bent and strained cell-cell boundaries, first observed at P0.5

• single layer of ependymal cells transformed into multilayer configuration at multiple sites

• disordered mature ependymal epithelial cells form amorphous accumulations of cells obstructing ventricular passage

• significant reduction in number of mature multiciliated ependymal cells in ventral caudal 3rd ventricle

growth/size/body

postnatal growth retardation ( J:251454 )

nervous system

nervous system phenotype ( J:251454 )

N • subarachnoid space and 4th ventricle morphology

abnormal neural tube ventricular layer morphology ( J:251454 )

• disorganized ependymal cells lining ventral caudal 3rd ventricle

• absent ependymal cells lining ventral caudal 3rd ventricle in areas of ventricle closure

• undulated appearance: distorted overall outline of ependymal cells marked by adherens junctions, with bent and strained cell-cell boundaries, first observed at P0.5

• single layer of ependymal cells transformed into multilayer configuration at multiple sites

• disordered mature ependymal epithelial cells form amorphous accumulations of cells obstructing ventricular passage

• significant reduction in number of mature multiciliated ependymal cells in ventral caudal 3rd ventricle

obstructive hydrocephaly ( J:251454 )

• postnatal

dilated lateral ventricle ( J:251454 )

• highly dilated

abnormal third ventricle morphology ( J:251454 )

• distorted and closed ventral caudal 3rd ventricle

enlarged third ventricle ( J:251454 )

• highly dilated rostral to closed region of aqueduct

brain ventricle stenosis ( J:251454 )

• at ventral caudal 3rd ventricle

• disordered mature ependymal epithelial cells form amorphous accumulations of cells obstructing ventricular passage

abnormal cerebral aqueduct morphology ( J:251454 )

• discontinuities with denudations of ependymal epithelial layer in median aqueduct, especially in vaults

• generally asymmetric and distorted bilobed canal at dorsal side of rostral aqueduct

• partially closed, forming two separate small lumens lined by ependymal epithelial cells

• undulated appearance: distorted overall outline of ependymal cells marked by adherens junctions, with bent and strained cell-cell boundaries, first observed at P0.5

• single layer of ependymal cells transformed into multilayer configuration at multiple sites

• becomes progressively narrower and ultimately closes (stenosis) between P0.5 and P14.5

• significant reduction in number of mature multiciliated ependymal cells in rostral aqueduct

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
obstructive hydrocephalus		DOID:14159		J:251454