Phenotypes Associated with This Genotype

Genotype
MGI:7783462

cx2

• Allelic Composition: Ttll1^tm1Seto/Ttll1^tm1Seto; Ttll7^tm1Seto/Ttll7^tm1Seto
• Genetic Background: involves: 129 * 129S/SvEv * C57BL/6J

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

nervous system

nervous system phenotype ( J:345300 )

N • mice exhibit normal brain weight and whole-brain macroscopic morphology and coronal histology; no significant changes in cerebral cortex thickness or neuron intensity are observed

abnormal cerebral cortex morphology ( J:345300 )

• immunohistochemistry revealed that signals of polyglutamylated tubulins are abolished in layer I as well as in the apical dendrites of cortical neurons in layer II/III

• a tubulin co-sedimentation assay showed that several microtubule-associated proteins and motor proteins (CLIP170, MAP1A, dynein, and KIF1A) are strongly reduced

abnormal dendrite morphology ( J:345300 )

• apical dendrites of cortical neurons in layer II/III show a markedly decreased number of neurofilaments, resulting in a significantly reduced diameter (thickness) of axonal dendritic shafts

abnormal nervous system physiology ( J:345300 )

• brain lysates show a significant reduction in both polyglutamylated alpha-tubulins and beta-tubulins

• however, the total amount of both tubulins is almost unchanged

homeostasis/metabolism

increased gamma-aminobutyric acid level ( J:345300 )

• in sagittal sections, GABA levels are moderately increased in the brain cortex, hippocampal formation, and cerebellum regions

• in coronal sections, GABA levels are significantly increased in the cortex

increased glutamic acid level ( J:345300 )

• in sagittal sections, glutamate levels are significantly increased in the brain, esp. in the cortex, hippocampal formation, and cerebellum regions

• in coronal sections, glutamate levels are significantly increased in the cortex

increased glutamine level ( J:345300 )

• in sagittal sections, glutamine levels are slightly increased in the brain cortex and moderately increased in the cerebellum, but not significantly changed in the hippocampal formation region

• in coronal sections, glutamine levels are significantly increased in the cortex

increased isoleucine level ( J:345300 )

• in sagittal sections, leucine-isoleucine levels are moderately increased in the brain cortex and cerebellum and significantly increased in the hippocampal formation region

• in coronal sections, leucine-isoleucine levels are significantly increased in the cortex

increased leucine level ( J:345300 )

• in sagittal sections, leucine-isoleucine levels are moderately increased in the brain cortex and cerebellum and significantly increased in the hippocampal formation region

• in coronal sections, leucine-isoleucine levels are significantly increased in the cortex

increased valine level ( J:345300 )

• in sagittal sections, valine levels are significantly increased in the brain cortex, hippocampal formation, and cerebellum regions

• in coronal sections, valine levels are significantly increased in the cortex