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 )

• however, grip strength appears unaffected

• 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

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