Materials and methods to study nonsyndromic autism due to ANK2 mutation

Duke scientists have developed a first of its kind mouse model for human nonsyndromic autism due to ANK2 mutation that exhibits credible differences in socially related behavior as heterozygotes, identified a neurospecific ANK2 spliced variant that is the target for autism-causing mutation, developed cDNAs encoding WT and mutant forms of the neurospecific ANK2 transcript, and developed neural cultures from mutant mice that exhibit increased axonal branching that can be rescued by transfection with neurospecific WT ANK2 cDNA.

Duke File (IDF) Number

T-006240

Inventor(s)

  • Bennett, G Vann "Vann"
  • Walder, Kathryn "Kathryn"

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College

School of Medicine (SOM)