Insyn1^em1Ssod
Endonuclease-mediated Allele Detail

Summary

• Symbol: Insyn1^em1Ssod
• Name: inhibitory synaptic factor 1; endonuclease-mediated mutation 1, Scott H Soderling
• MGI ID: MGI:6392387
• Synonyms: InSyn1^-
• Gene: Insyn1 Location: Chr9:58395886-58407063 bp, + strand Genetic Position: Chr9, 31.79 cM
• Alliance: Insyn1^em1Ssod page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The molecular lesion is an 11-bp missense deletion in exon 2 causing an out-of-frame mutation following 34 amino-acids and a premature stop codon in a highly conserved region of the gene. Homology-Independent Targeted Integration (HITI) labeling revealed loss of puncta staining in hippocampal neurons from homozygous mutant mice, thus confirming absence of protein expression. (J:284536)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Insyn1 Mutation: 23 strains or lines available

References

• Original: J:284536 Uezu A, et al., Essential role for InSyn1 in dystroglycan complex integrity and cognitive behaviors in mice. Elife. 2019 Dec 12;8:e50712
• All: 1 reference(s)