Phenotypes Associated with This Genotype

Genotype
MGI:5771801

cn6

• Allelic Composition: Smarcb1^tm2Sho/Smarcb1^tm2Sho; Tg(GFAP-cre)#Gtm/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

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

nervous system

abnormal cerebellar granule cell migration ( J:226786 )

• variable, mild defect in granule neuron migration

abnormal brain white matter morphology ( J:226786 )

• brain lesions that are prominent in the white matter of the corpus callosum with vacuolization, spongy changes, cystic-like breakdown and destruction of tissue

• extent of damage is variable and progresses with age

abnormal corpus callosum morphology ( J:226786 )

• posterior portion of the corpus callosum is more affected than the anterior portion

thin cerebral cortex ( J:226786 )

abnormal cerebellar Purkinje cell layer ( J:226786 )

• disorganization of the Purkinje cell layer

axon degeneration ( J:226786 )

• loss of axons

demyelination ( J:226786 )

• loss of myelin

cellular

abnormal cerebellar granule cell migration ( J:226786 )

• variable, mild defect in granule neuron migration

neoplasm

neoplasm ( J:226786 )

N • mice do not develop brain tumors up to more than 1 year of age