Phenotypes Associated with This Genotype

Genotype
MGI:3575537

• Allelic Composition: Brsk1^tm1Jrs/Brsk1^tm1Jrs; Brsk2^tm1Jrs/Brsk2^tm1Jrs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:96030 )

• died within 2 hours of birth

behavior/neurological

hyporesponsive to tactile stimuli ( J:96030 )

• were only weakly responsive to tactile stimulation

bradykinesia ( J:96030 )

• showed little spontaneous movement

nervous system

disorganized cortical plate ( J:96030 )

• segregation of neuronal subtypes to sublayers within the cortical plate was disordered

abnormal subplate morphology ( J:96030 )

• the subplate was poorly defined

decreased forebrain size ( J:96030 )

• forebrain was noticeably smaller

enlarged brain ventricles ( J:96030 )

• the cerebral ventricle was enlarged at E19

abnormal hippocampus morphology ( J:96030 )

• neurons from the hippocampus grown in culture failed to form distinct axons and dendrites and exhibited polarization defects, showing neurites that were relatively uniform in length and branching complexity

abnormal cerebral cortex morphology ( J:96030 )

• cortex was abnormally thin at E19 however it contained the main cortical cell types

• increased apoptosis in the cerebral cortex

• cortical neurons did not extend long axons from the cortex to the thalamus and TAG-1⁺ corticothalamic axons were absent in mutants

• neurons from the cortex grown in culture failed to form distinct axons and dendrites and exhibited polarization defects, showing neurites that were relatively uniform in length and branching complexity

abnormal neuron morphology ( J:96030 )

• neurons often had a starburst morphology or processes that ran diagonally or tangentially rather than radially, and axons were difficult to distinguish from dendrites

abnormal axon extension ( J:96030 )

• cortical neurons did not extend long axons from the cortex to the thalamus and TAG-1⁺ corticothalamic axons were absent in mutants

• neurons from the cerebral cortex and the hippocampus grown in culture failed to form distinct axons and dendrites

cellular

abnormal axon extension ( J:96030 )

• cortical neurons did not extend long axons from the cortex to the thalamus and TAG-1⁺ corticothalamic axons were absent in mutants

• neurons from the cerebral cortex and the hippocampus grown in culture failed to form distinct axons and dendrites