The ENU induced mutation in these mice causes generalized, tonic–clonic seizures or maximal tonic hindlimb extension seizures in response to transcorneal electrical stimulation.Read More +
Mice carrying this dominant missense point mutation in the thymoma viral proto-oncogene 3 (Akt) gene exhibit a low seizure threshold in response to electroconvulsive threshold testing or pentylenetetrazol (PTZ) administration, sporadic tonic-clonic seizures, brain enlargement and ecotopic neurons in the dentate hilus and molecular layer of the hippocampus. This mutant mouse strain may be useful in studies of AKT signalling and epilepsy.
This missense point mutation was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for exhibiting a low threshold in the electroconvulsive test. The mutation results in an A to T change at codon 219 altering the corresponding amino acid from aspartic acid to valine at position 219 (D219V)in the highly conserved kinase domain. This mutation was maintained on a C57BL/6J background in the laboratory of Dr. Wayne Frankel. Mice were cryopreserved in 2006.
|Allele Name||neuroscience mutagenesis facility, 350|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Akt3, thymoma viral proto-oncogene 3|
|Strain of Origin||C57BL/6J|
|Molecular Note||ENU mutagenesis induced an A to T transversion in codon 219 that results in an amino acid substitution of valine for aspatic acid at position 219 (D219V).|