Phenotypes Associated with This Genotype

Genotype
MGI:6888382

• Allelic Composition: Tubb4a^Jit/Tubb4a⁺
• Genetic Background: FVB.B6-Tubb4a^Jit

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

behavior/neurological

ataxia ( J:321692 )

• mice appear ataxic by 1 year of age

impaired coordination ( J:321692 )

• mice appear uncoordinated at advanced ages

• mice perform more poorly on the rotarod as early as P21, showing motor function deficits, and performance on the rotarod deteriorates with increased age

• however, grip strength appears unaffected

nervous system

abnormal cerebellar granule cell morphology ( J:321692 )

• reduction in the inner granule layer surface area, indicating granule cell neuron degeneration

cerebellum atrophy ( J:321692 )

• progressive cerebellar degeneration resulting in reduced cerebellum size

dysmyelination ( J:321692 )

• mild reduction in myelination in the anterior commissure, striatum, brainstem, and spinal cord at P21

• CNS shows progressive loss of myelin by 1 year of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypomyelinating leukodystrophy 6		DOID:0060798	OMIM:612438	J:321692