Szt1 Complex/Cluster/Region Detail

Summary

• Symbol
  Szt1
• Name
  seizure threshold 1

• Feature Type
  complex/cluster/region
• IDs
  MGI:2156743

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.

• Genetic Map
  Chromosome 2, Syntenic
• Mapping Data
  2 experiments

Human Diseases

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  9 phenotypes from 1 allele in 2 genetic backgrounds
  4 phenotypes from multigenic genotypes
  4 phenotype references
  

• All Mutations and Alleles
  1
• Spontaneous
  1
• Find Mice (IMSR)
  1 strains or lines available

Mice homozygous for this deletion die shortly after birth from pulmonary dysfunction. Mice heterozygous for this deletion are small, susceptible to seizure induction, and display pyramidal neuronal deficiencies in the hippocampus.

References

• Summaries
  All 5

  Diseases 1

  Phenotypes 4
• Earliest
  J:82964 Yang Y, et al., Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold. Hum Mol Genet. 2003 May 1;12(9):975-84
• Latest
  J:136510 Kearney JA, et al., Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. Hum Mol Genet. 2006 Mar 15;15(6):1043-8