Phenotypes Associated with This Genotype

Genotype
MGI:3664624

hm1

• Allelic Composition: Tmem176b^tm1Tto/Tmem176b^tm1Tto
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

behavior/neurological

ataxia ( J:111587 )

• about 65% show severe ataxia within 2 weeks of age; ataxia appears sporadically

nervous system

abnormal cerebellum development ( J:111587 )

• cerebellum from some mutants is similar in size until P0, at which point it appears smaller and does not grow well after P7

• mutants with ataxia exhibit severely aberrant lobulation of the cerebellum

abnormal cerebellar foliation ( J:111587 )

• folia are not clearly observed at P0 in ataxic mutants

abnormal cerebellum external granule cell layer morphology ( J:111587 )

• the external granule layer is not clearly observed at P0 in ataxic mutants

abnormal cerebellar Purkinje cell layer ( J:111587 )

• mutants with ataxia exhibit disorganization of the Purkinje cell layer

abnormal cerebellar granule layer morphology ( J:111587 )

• mutants with ataxia exhibit loss of the internal granule cell layer and reduced number of granule cells

small cerebellum ( J:111587 )

• mutants with ataxia exhibit a small cerebellum at P14