Phenotypes associated with this allele

• Allele Symbol: Shh^tm3Amc
• Allele Name: targeted mutation 3, Andrew P McMahon
• Allele ID: MGI:2387802
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Shh^tm2Amc/Shh^tm3Amc Tg(Pcp2-cre)1Amc/0	involves: 129S1/Sv * 129X1/SvJ * Black Swiss	MGI:3656218
cn2	Shh^tm2Amc/Shh^tm3Amc Tg(Pax2-cre)1Amc/0	involves: 129S1/Sv * 129X1/SvJ * Black Swiss	MGI:3656220

Genotype
MGI:3656218

cn1

• 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

Genotype
MGI:3656220

cn2

• Allelic Composition: Shh^tm2Amc/Shh^tm3Amc; Tg(Pax2-cre)1Amc/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

mortality/aging

premature death ( J:92189 )

• mice survive only until 4-6 weeks of age

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 )

abnormal cerebellum development ( J:92189 )

• cerebellar development is more severely affected than in Shh^tm2Amc/Shh^tm3Amc;Tg(Pcp2-cre)1Amc mice

abnormal cerebellum external granule cell layer morphology ( J:92189 )

• external germinal layer (EGL) is thin at E18.5

• at P5 there is no EGL

abnormal cerebellar Purkinje cell layer ( J:92189 )

• at P5 cells form a broad densely packed layer at P5; dendrite projections of Purkinje cells are hard to distinguish

• at P14 there is a mixture of Purkinje cell bodies and disorganized cellular projections

decreased Purkinje cell number ( J:92189 )

• decreased by 25% at E18.5

• at P5 cell number is reduced by 50%

• in adults, number is reduced by 65%

abnormal cerebellar granule layer morphology ( J:92189 )

• there is no apparent inner germinal layer (IGL) at P5, although at P5 some scattered granule cells can be seen

• in the adult cerebellum, there is no IGL

abnormal cerebellar granule cell morphology ( J:92189 )

• proliferation of granule neuron progenitors is absent in the EGL at E18.5 and P5

abnormal cerebellar molecular layer ( J:92189 )

• in the adult cerebellum, molecular layer is absent

absent cerebellar lobules ( J:92189 )

• at E18.5 pups have no lobules

• in the adult cerebellum, there is a loss of rostral lobes

small cerebellum ( J:92189 )

• at P5, cerebellum is small with some rudimentary lobules

abnormal astrocyte morphology ( J:92189 )

• disorganization of Bergmann glia is more severe than in Shh^tm2Amc/Shh^tm3Amc;Tg(Pcp2-cre)1Amc mice post P5