Chd8^em1Mjz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Chd8^em1Mjz
• Name: chromodomain helicase DNA binding protein 8; endonuclease-mediated mutation 1, Mark J Zylka
• MGI ID: MGI:7492290
• Synonyms: Chd8^V986*
• Gene: Chd8 Location: Chr14:52435608-52495237 bp, - strand Genetic Position: Chr14, 26.84 cM
• Alliance: Chd8^em1Mjz page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology introduced tandem stop codons at amino acid positions V986 and E987, as well as a MboI restriction site. This corresponds to the autism spectrum disorder-linked mutation V984* in human. (J:332936)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 Chd8 Mutation: 107 strains or lines available

References

• Original: J:332936 Jimenez JA, et al., Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life. Mol Autism. 2020 Oct 5;11(1):74
• All: 3 reference(s)