Chd4^em1Flc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Chd4^em1Flc
• Name: chromodomain helicase DNA binding protein 4; endonuclease-mediated mutation 1, Frank Conlon
• MGI ID: MGI:7510181
• Synonyms: CHD4^M195I
• Gene: Chd4 Location: Chr6:125073144-125107554 bp, + strand Genetic Position: Chr6, 59.28 cM
• Alliance: Chd4^em1Flc page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to C change resulting in a methionine to isoleucine substitution at amino acid 195 (p.M195I) which corresponds to the human M202I variant identified in a proband with ventricular septal defects and conotruncal abnormalities. (J:338019)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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 Chd4 Mutation: 58 strains or lines available

References

• Original: J:338019 Shi W, et al., Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1. Circ Res. 2023 Jun 23;133(1):48-67
• All: 1 reference(s)