Phenotypes associated with this allele

• Allele Symbol: Ip6k3^tm1.1Snyd
• Allele Name: targeted mutation 1.1, Solomon Snyder
• Allele ID: MGI:5788648
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ip6k3^tm1.1Snyd/Ip6k3^tm1.1Snyd	Not Specified	MGI:5790076

Genotype
MGI:5790076

hm1

• Allelic Composition: Ip6k3^tm1.1Snyd/Ip6k3^tm1.1Snyd
• Genetic Background: Not Specified

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

behavior/neurological

abnormal motor learning ( J:225876 )

♂ • impaired motor learning, as shown by rotarod test

impaired coordination ( J:225876 )

♂ • impaired coordination, as shown by rotarod test

♂ • however, overall locomotor activity is relatively normal, as assessed by open field analysis

abnormal gait ( J:225876 )

♂ • significantly decreased percentage of forepaw-hindpaw overlap relative to wild-type controls

♂ • however, stride length and forelimb and hindlimb step width are normal

nervous system

nervous system phenotype ( J:225876 )

♂N • absence of gross abnormalities in brain structure, as revealed by H&E staining of whole brain, hippocampus, and cerebellum

♂N • no signs of inflammation are detected in brain

abnormal Purkinje cell morphology ( J:225876 )

♂ • at 8 weeks of age, cell volume is significantly decreased in Purkinje cells relative to wild-type controls

♂ • however, Purkinje cell number is normal

abnormal Purkinje cell dendrite morphology ( J:225876 )

♂ • at 8 weeks of age, Golgi staining revealed withered dendritic trees with a significantly reduced spine number in Purkinje cells

♂ • similar alterations in Purkinje cell structure are seen at 12 months of age, suggesting a developmental rather than a degenerative disorder

thin cerebellar molecular layer ( J:225876 )

♂ • at 8 weeks of age, the width of the cerebellar molecular layer is reduced relative to wild-type controls

♂ • however, the width of the cerebellar granule layer remains normal

decreased CNS synapse formation ( J:225876 )

♂ • at 8 weeks of age, EM of the cerebellar molecular layer revealed that both symmetric (inhibitory) and asymmetric (excitatory) synapses are reduced by ~40-50% relative to wild-type controls

♂ • GABAergic and parallel fiber synapses are reduced by ~40% while climbing fiber synapses are reduced by ~50% in cerebellar Purkinje cells relative to wild-type controls

♂ • however, synaptic size, presynaptic vesicle number, and synaptic cleft thickness are relatively normal

abnormal GABAergic neuron morphology ( J:225876 )

♂ • immunostaining of GAD65 (the GABA synthesizing enzyme and a marker for GABAergic synapses) is significantly reduced in cerebellar Purkinje cells relative to wild-type controls

abnormal dendrite morphology ( J:225876 )

♂ • at 8 weeks of age, Golgi staining of granule cells, basket cells, Golgi cells, and stellate cells revealed modestly shorter dendritic length (22 +/- 5% less for basket cell, 15 +/- 4% less for Golgi cell, and 25 +/- 8% less for stellate cell) but overall normal cell morphology relative to wild-type controls

decreased dendritic spine number ( J:225876 )

♂ • at 8 weeks of age, dendritic spine number is significantly decreased in Purkinje cells relative to wild-type controls

abnormal nervous system physiology ( J:225876 )

♂ • binding of alpha-adducin and beta-adducin with beta2-spectrin is significantly reduced in the cerebellum, indicating altered interaction and disposition of cytoskeletal proteins

♂ • however, cerebellar protein levels of spectrins and adducins remain normal

reproductive system

decreased litter size ( J:225876 )

• mice breed fairly normally but produce fewer progeny than wild-type controls (5 +/- 1 vs 7 +/- 1, respectively)