Syne1^em1Didh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Syne1^em1Didh
• Name: spectrin repeat containing, nuclear envelope 1; endonuclease-mediated mutation 1, Didier Hodzic
• MGI ID: MGI:6272744
• Synonyms: Nes1g^STOP
• Gene: Syne1 Location: Chr10:4970917-5501482 bp, - strand Genetic Position: Chr10, 2.01 cM, cytoband A1
• Alliance: Syne1^em1Didh page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s), Null/knockout)
• Mutation: Insertion
• Mutation details: Exon -64 (counted from the last exon backwards) was targeted for the insertion of a 16 bp sequence with an sgRNA and a template oligonucleotide using CRSIPR/Cas9 technology. The inserted sequence contains stop codons in all three reading frames and a diagnostic EcoRI restriction site and was inserted after glutamine codon 5328, 131 bp into the exon. The result is an allele where the Nes1g (nesprin 1 giant) splice variants have a premature stop codon. Immunoblots showed a complete absence of giant isoforms in brain lysates. (J:268589)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Syne1 Mutation: 202 strains or lines available

References

• Original: J:268589 Potter C, et al., The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells. Neurobiol Dis. 2018 Jul;115:82-91
• All: 1 reference(s)