Nexn^em1Chen
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nexn^em1Chen
• Name: nexilin; endonuclease-mediated mutation 1, Ju Chen
• MGI ID: MGI:6510879
• Synonyms: Nexn G645del, Nexn^G645delta
• Gene: Nexn Location: Chr3:151942619-151971987 bp, - strand Genetic Position: Chr3, 77.07 cM
• Alliance: Nexn^em1Chen page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Nucleotide substitutions
• Mutation details: A 3 bp region coding for the amino acid residue G645 (equivalent to the human G650) was deleted from the endogenous gene using CRISPR/Cas9 genome editing technology. mRNA levels are normal but protein levels are decreased to 30% of wild-type levels in homozygotes. (J:301807)

Disease models

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Nexn Mutation: 28 strains or lines available

References

• Original: J:301807 Liu C, et al., Homozygous G650del nexilin variant causes cardiomyopathy in mice. JCI Insight. 2020 Aug 20;5(16)
• All: 1 reference(s)