Mouse Models
SCAR8/ARCA1
Publication
Nes1g STOP/STOP
Identification
- Causal gene(s)
- SYNE1
- Repeat size or mutation
- Depletion of giant isoforms of Nesprin1
- Animal model
- Mouse
Model Details
- Mouse strain / background
- C57/BL6
- Type of model
- CRISPR/Cas9-induced stop codon
Transgenic Construct
- Transgenic construct: details
- To specifically inhibit the expression of giant isoforms of Nesprin1, 16 bases including STOP codons in all reading frames and an EcoRI restriction site were inserted within exon −64 of Syne1 used a CRISPR/Cas9 approach
Phenotype
- Progression
- 3 months
- Hallmark features
- Enlargement of verntricular volume
Source & Publications
- Originating lab / institution
- Washington University School of Medicine
- Links to publications or public resources
Some fields are restricted to approved researchers. Log in to view them.