Chd7^em1Clwa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Chd7^em1Clwa
• Name: chromodomain helicase DNA binding protein 7; endonuclease-mediated mutation 1, Cheryl Lyn Walker
• MGI ID: MGI:8217193
• Synonyms: Chd7^fs
• Gene: Chd7 Location: Chr4:8690406-8867659 bp, + strand Genetic Position: Chr4, 3.68 cM
• Alliance: Chd7^em1Clwa page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a frameshift deletion that introduces a premature stop codon upstream of the CHD7 chromodomains. The frameshift null allele terminates at the N-terminal region due to the deletion of a cytosine at position 2718 (NM_001277149.1). (J:367537)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Chd7 Mutation: 134 strains or lines available

References

• Original: J:367537 Park IY, et al., A novel cardiomyopathy phenotype linked to a CHD7 missense variant. Sci Rep. 2025 Jun 3;15(1):19429
• All: 1 reference(s)