Phenotypes Associated with This Genotype

Genotype
MGI:2653878

hm1

• Allelic Composition: Astn1^tm1Hatn/Astn1^tm1Hatn
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

behavior/neurological

impaired coordination ( J:74969 )

• in both standard fixed speed and accelerated tests, mutants are less able to stay on the rotarod

nervous system

increased neuron apoptosis ( J:74969 )

• 50% increase in apoptosis of cerebellar granule cells in the EGL

abnormal cerebellar granule cell migration ( J:74969 )

• reduction in migration rates of cerebellar granule cells along glial processes in an in vitro migration assay

• migration of cerebellar granule cells from the external granule layer (EGL) to the internal granule layer (IGL) is slower than in controls

abnormal cerebellum morphology ( J:74969 )

abnormal cerebellum external granule cell layer morphology ( J:74969 )

• external granule layer (EGL) appears to be still present at P15, at a time that it is no longer seen in wild-type, due to slower granule cell migration

abnormal cerebellar Purkinje cell layer ( J:74969 )

• dismorphic arborization patters seen after P21; Purkinje cells are not as well ordered in the sagittal plane as in wild-type and are frequently found displaced out of plane and their dendritic fields invade areas normally filled by adjacent Purkinje cells

abnormal cerebellar granule cell morphology ( J:74969 )

• decrease in the ability of granule cells from P6 mutants to bind to wild-type glia compared with wild-type granule cells

• migration rates of granule cells are reduced

• 50% increase in apoptosis of granule cells in the EGL

ectopic cerebellar granule cells ( J:74969 )

• ectopic accumulations of granule cells in the molecular layer

thin cerebellar granule layer ( J:74969 )

• thin inner granule cell layer at P6

small cerebellum ( J:74969 )

• 10% smaller

cellular

increased neuron apoptosis ( J:74969 )

• 50% increase in apoptosis of cerebellar granule cells in the EGL

abnormal cerebellar granule cell migration ( J:74969 )

• reduction in migration rates of cerebellar granule cells along glial processes in an in vitro migration assay

• migration of cerebellar granule cells from the external granule layer (EGL) to the internal granule layer (IGL) is slower than in controls