Chd7^Trooper
Chemically induced Allele Detail

Summary

• Symbol: Chd7^Trooper
• Name: chromodomain helicase DNA binding protein 7; trooper
• MGI ID: MGI:7486783
• Gene: Chd7 Location: Chr4:8690406-8867659 bp, + strand Genetic Position: Chr4, 3.68 cM
• Alliance: Chd7^Trooper page

Mutation origin

• Strain of Origin: BALB/c

Mutation description

• Allele Type: Chemically induced (ENU) (Not Applicable)
• Mutation: Single point mutation
• Mutation details: A point mutation in intron 9 (c.3219-18 T > A) created a cryptic splice site. This mutation results in the expression of alternate transcripts including one retaining 16 nt of intron 9 resulting in a frameshift and premature stop codon in exon 10. (J:262283)
• Inheritance: Dominant

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: 136 strains or lines available

References

• Original: J:262283 Ogier JM, et al., An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome. Sci Rep. 2018 Apr 3;8(1):5482
• All: 1 reference(s)