Scn2a^em1Gsp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn2a^em1Gsp
• Name: sodium channel, voltage-gated, type II, alpha; endonuclease-mediated mutation 1, Geoffrey S Pitt
• MGI ID: MGI:6781911
• Synonyms: Scn2a^delta1898
• Gene: Scn2a Location: Chr2:65451115-65597791 bp, + strand Genetic Position: Chr2, 38.61 cM
• Alliance: Scn2a^em1Gsp page

Mutation origin

• Strain of Origin: (C57BL/6J x SJL/J)F1

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology deleted 8 bp (nucleotides 5693-5697; CCACC and nucleotides 5699-5701; CTC) and generated a frameshift after T1898 in the C-terminus and a subsequent stop codon following 26 potentially novel amino acids. Truncation at T1898 eliminates the binding site for the channel auxiliary subunit calmodulin which regulates the persistent Na+ current. Protein truncation variants in the final exon are common to multiple autism spectrum disorder-associated mutations in this gene. (J:311772)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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 Scn2a Mutation: 92 strains or lines available

References

• Original: J:311772 Wang HG, et al., Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors. JCI Insight. 2021 Aug 9;6(15)
• All: 1 reference(s)