Chd7^Looper
Chemically induced Allele Detail

Summary

• Symbol: Chd7^Looper
• Name: chromodomain helicase DNA binding protein 7; looper
• MGI ID: MGI:5505450
• Synonyms: LooperMcri
• Gene: Chd7 Location: Chr4:8690406-8867659 bp, + strand Genetic Position: Chr4, 3.68 cM
• Alliance: Chd7^Looper page

Mutation origin

• Strain of Origin: BALB/c

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: This mutation is a c.5690C>A change in exon 29 is predicted to result in premature termination of translation of Chd7 (c.5690C>A, p.S1897X, NCBI reference sequences NC_000070.6, NM_001081417.1, CCDS38689.1, NP_001074886.1). (J:252089)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

12 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: 138 strains or lines available

References

• Original: J:252089 Ogier JM, et al., CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment. PLoS One. 2014;9(5):e97559
• All: 1 reference(s)