Heterozygotes have a slight increase in electroconvulsion over wild-type controls and 90% of homozygotes on this 129S1 background die before birth. In electroconvulsion tests some homozygotes were found to bypass the minimal clonic seizure endpoint and proceed directly to tonic hindlimb extension. On the C57BL/6J background (stock #010916) no homozygotes were found to survive to birth. In addition to the increased seizure phenotype, homozygotes on this 129S1 background have a slightly diluted coat color.
The 129P2/OlaHsd derived mutant ES cell clone XH662 from Bay Genomics was microinjected into blastocysts at The Jackson Laboratory and a resultant chimera was crossed once to C57BL/6J and then backcrossed to 129S1/SvImJ for 10 generations and intercrossed to homozygosity before sperm was cryopreserved in 2009.
|Allele Name||gene trap XH662, BayGenomics|
|Allele Type||Gene trapped (Reporter, Null/Knockout)|
|Gene Symbol and Name||Szt2, seizure threshold 2|
|Strain of Origin||129P2/OlaHsd|
|Molecular Note||The gene trap vector was inserted in exon 21. Northern blot analysis indicates an increase in expression of the mutant transcript in whole brains from homozygous mice.|