Phenotypes Associated with This Genotype

Genotype
MGI:3759994

• Allelic Composition: Mapk8ip1^tm1Rjd/Mapk8ip1^tm1Rjd; Mapk8ip2^tm1Rjd/Mapk8ip2^tm1Rjd
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6

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

nervous system

abnormal cerebellum morphology ( J:125318 )

• mice exhibit defects in the cerebellum

abnormal Purkinje cell morphology ( J:125318 )

• mice have defects in arborization of Purkinje cell

• however, cortical and hippocampal neurons are normal

abnormal NMDA-mediated synaptic currents ( J:125318 )

• treatment with NMDA fails to cause an increase in cytoplasmic calcium in neurons unlike in wild-type mice

• NMDA-mediated current amplitude is decreased relative to in wild-type mice

• desensitization of the NMDA-mediated current is reduced relative to in wild-type mice

• however, intracellular calcium homeostasis is normal

behavior/neurological

ataxia ( J:125318 )

• mice are severely ataxic