Phenotypes Associated with This Genotype

Genotype
MGI:3698561

• Allelic Composition: Tuba1a^Jna/Tuba1a⁺
• Genetic Background: involves: BALB/cAnN * C3H/HeH

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

growth/size/body

decreased body weight ( J:117881 )

• weigh about 30% less than wild-type

nervous system

impaired neuronal migration ( J:117881 )

• exhibit impaired radial migration of neurons, resulting in abnormal hippocampal and cortical architecture

abnormal hippocampus morphology ( J:117881 )

abnormal Ammon gyrus morphology ( J:117881 )

• neuronal disorganization in Ammon's horn affecting both CA1 and CA3 regions at E14.5

abnormal dentate gyrus morphology ( J:117881 )

• the dentate gyrus appears chaotic at E14.5 but shows no abnormalities in the adult, suggesting a delay in its development

abnormal hippocampal mossy fiber morphology ( J:117881 )

• disorganization of the mossy fiber tract extending from the dentate gyrus to CA3

abnormal hippocampus pyramidal cell layer ( J:117881 )

• exhibit abnormal lamination of pyramidal cells in the hippocampus

• hippocampal disorganization with an additional layer of pyramidal cells in the stratum oriens that extend throughout the pyramidal cell subfields into the subiculum

decreased hippocampus pyramidal cell number ( J:117881 )

• fewer calbindin-positive pyramidal neurons in the CA1 region

abnormal cerebral cortex morphology ( J:117881 )

• exhibit wave-like perturbations in layer IV of the cortex (in visual, auditory, and somatosensory cortices but not in the motor or retrosplenial cortices) and to a lesser extent, in layers II/III

abnormal somatosensory cortex morphology ( J:117881 )

• exhibit wave-like perturbations in the somatosensory cortex

abnormal visual cortex morphology ( J:117881 )

• exhibit wave-like perturbations in the visual cortex

abnormal auditory cortex morphology ( J:117881 )

• exhibit wave-like perturbations in the auditory cortex

behavior/neurological

abnormal spatial working memory ( J:117881 )

• exhibit impaired spatial working memory, performing worse in spontaneous alternation in a T-maze working memory task

• however, mutants perform normally in a hippocampal-independent reference memory acquisition task

decreased anxiety-related response ( J:117881 )

• in an elevated plus maze, heterozygotes prefer the open arms of the elevated plus and in an open field, show a reduced latency to enter the center of the open field, indicating less fear and anxiety

hyperactivity ( J:117881 )

abnormal nest building behavior ( J:117881 )

• heterozygotes fail to construct proper nests

cellular

impaired neuronal migration ( J:117881 )

• exhibit impaired radial migration of neurons, resulting in abnormal hippocampal and cortical architecture

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lissencephaly		DOID:0050453	OMIM:PS607432	J:117881