Phenotypes Associated with This Genotype

Genotype
MGI:3656218

• Allelic Composition: Shh^tm2Amc/Shh^tm3Amc; Tg(Pcp2-cre)1Amc/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

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

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:92189 )

• pups display movement disorders characteristic of abnormal cerebellar function

ataxia ( J:92189 )

nervous system

abnormal cerebellum morphology ( J:92189 )

• at E18.5, cerebellum is detected to be abnormal with immature fissures and a reduction in the external granule layer; however no difference in cerebellar volume is evident between mutants and wild-type

abnormal cerebellum development ( J:92189 )

abnormal cerebellar lobule formation ( J:92189 )

• at E18.5 mutants have 5 rudimentary lobules

• at P5, cerebellum has small primitive lobules

thin external granule cell layer ( J:92189 )

abnormal cerebellar Purkinje cell layer ( J:92189 )

• at P5 cells are dispersed in a thinner layer than in control Shh^tm2Amc/Shh^tm3Amc control mice or Shh^tm2Amc/Shh^tm3Amc;Tg(Pax2-cre)1Amc mice

• dendrite projections of cells are hard to distinguish

• at P14, there is a layer of Purkinje neurons that is better organized than in Shh^tm2Amc/Shh^tm3Amc;Tg(Pax2-cre)1Amc mice

decreased Purkinje cell number ( J:92189 )

• at P5 number is reduced by 20% compared to controls

• in adults, a 35% reduction is apparent

small cerebellum ( J:92189 )

• in adults, cerebellum is small but has distinct lobes with Purkinje cells organized into a 1-2 cell layer overlayed by a thin inner germinal layer