A transgene insertion at perinatal lethality (ple) is associated with abnormalities of the cortex

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Induction of Protein Deletion Through In Utero Electroporation to Define Deficits in Neuronal Migration in Transgenic Models
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Induction of Protein Deletion Through In Utero Electroporation to Define Deficits in Neuronal Migration in Transgenic Models

Published on: January 12, 2015

D R Beier1, H Dushkin, L V Stone

  • 1Genetics Division, Brigham and Women's Hospital, Boston, MA 02115, USA. beier@rascal.med.harvard.edu

Brain Research
|July 15, 1996
PubMed

Insights

Mice with a perinatal lethality (ple) mutation showed reduced size and survival, with homozygous individuals exhibiting brain development abnormalities like cortical ectopias. This suggests a deletion event may accompany the transgene insertion.

Area of Science:

  • Genetics
  • Developmental Biology
  • Neuroscience

Background:

  • A transgene insertion in mice, termed perinatal lethality (ple), was investigated for its effects.
  • Homozygous ple mice exhibited reduced size and survival rates, even in a hybrid genetic background.

Purpose of the Study:

  • To characterize the phenotypic effects of the perinatal lethality (ple) mutation.
  • To investigate the genetic basis of the observed abnormalities, particularly in brain development.

Main Methods:

  • Cross-breeding experiments were performed to assess viability in different genetic backgrounds.
  • Genomic sequencing and Southern blot analysis were used to identify the disrupted genomic region and assess for deletions.

Main Results:

  • Homozygous ple mice were significantly smaller and had poor survival rates (<48 hours) in an inbred background.
  • In a hybrid background, homozygous mice were viable but underrepresented, showing variable brain abnormalities including focal cortical ectopias and polymicrogyria.
  • Analysis suggested a deletion event coincided with the transgene insertion, as indicated by hybridization failures.

Conclusions:

  • The perinatal lethality (ple) mutation has a deleterious effect on mouse development, impacting growth, survival, and brain development.
  • The findings suggest a potential deletion event associated with the transgene insertion, contributing to the observed phenotype.

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