Phenotypes Associated with This Genotype

Genotype
MGI:7286319

• Allelic Composition: Tbc1d7^em1Hms/Tbc1d7^em1Hms
• Genetic Background: C57BL/6J-Tbc1d7^em1Hms

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

nervous system

astrocytosis ( J:325096 )

increased brain size ( J:325096 )

• in male and female mice at 13 months of age

increased brain weight ( J:325096 )

• in male and female mice at 6 weeks and 13 months of age

• however, brain weight at E16.5 is normal

thickened cerebral cortex ( J:325096 )

• increased thickness of cortical layer IV/V, layer VI, and entire cortex

• however, neuronal density is normal

abnormal neuron morphology ( J:325096 )

• increased soma size at DIV4

• however, mice exhibit normal dendritic length and soma-proximal branching

abnormal neuron specification ( J:325096 )

• reduced single-axon specification

• however, treatment with rapamycin restores axon specification

behavior/neurological

behavior/neurological phenotype ( J:325096 )

N • mice exhibit normal gross motor skills and coordination and social and behavioral assay performance

limb grasping ( J:325096 )

decreased grip strength ( J:325096 )

• reduced hindlimb strength at 6 weeks, 3 months, and 6 months that cannot be restored with rapamycin treatment

abnormal gait ( J:325096 )

• abnormal stance and gait

short stride length ( J:325096 )

• with increased stride offset and stance length

• however, sway length is normal

hypoactivity ( J:325096 )

• reduces distance traveled in an open field test at 6 months of age due to reduced walking speed

growth/size/body

increased lean body mass ( J:325096 )

• at 6 months of age

muscle

increased skeletal muscle fiber size ( J:325096 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:325096 )

N • mice exhibit normal fasting insulin and glucose levels and glucose and insulin tolerance

cellular

astrocytosis ( J:325096 )