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Updated: Jun 28, 2026
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Mouse In Vivo Placental Targeted CRISPR Manipulation
Published on: April 14, 2023
A mouse translocation associated with Caspr5-2 disruption and perinatal lethality
Dieter Weichenhan1, Walther Traut, Christina Göngrich
1Deutsches Krebsforschungszentrum, 69120 Heidelberg, Germany. d.weichenhan@dkfz-heidelberg.de
Summary
A mutation in the Caspr5-2 gene causes early death in mice. This gene disruption likely leads to cellular dysfunction, not organ malformation, impacting spinal cord and brain development.
Area of Science:
- Genetics
- Developmental Biology
- Neuroscience
Background:
- The neurexin gene family plays a crucial role in neural development.
- Paralogous genes Caspr5-1, -2, and -3 are involved in mouse development.
- Understanding gene function is essential for identifying causes of developmental defects.
Purpose of the Study:
- To map a null mutation in the Caspr5-2 gene.
- To investigate the cause of lethality in homozygous carriers.
- To determine the role of Caspr5-2 in mouse development.
Main Methods:
- Cytogenetic and molecular mapping of a reciprocal translocation.
- Analysis of gene disruption at the DNA level.
- Examination of fetal and postnatal homozygous carriers for malformations.
Main Results:
- A reciprocal translocation disrupted Caspr5-2 between exons 1 and 2.
- Homozygous carriers exhibited stillbirth or early postnatal lethality.
- No gross malformations were detected in affected fetuses, suggesting cellular-level dysfunction.
Conclusions:
- Disruption of the Caspr5-2 gene is the likely cause of lethality.
- Caspr5-2 dysfunction may affect cellular processes in the spinal cord and brain.
- Rare surviving homozygotes might be rescued by other Caspr5 paralogs.
