Chd7^em1Jiao
Endonuclease-mediated Allele Detail

Summary

• Symbol: Chd7^em1Jiao
• Name: chromodomain helicase DNA binding protein 7; endonuclease-mediated mutation 1, Kai Jiao
• MGI ID: MGI:6490625
• Synonyms: Chd7^S824F
• Gene: Chd7 Location: Chr4:8690406-8867659 bp, + strand Genetic Position: Chr4, 3.68 cM
• Alliance: Chd7^em1Jiao page

Mutation origin

• Strain of Origin: (C57BL/6 x SJL)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to T change at position 2471 resulting in a serine to phenylalanine substitution at residue 824 (p.S824F). This mouse mutation corresponds to the human S834F mutation, which is a pathological variant identified in CHARGE syndrome, idiopathic hypogonadotropic hypogonadism, and Kallmann syndrome patients. (J:298597)

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:298597 Yan S, et al., CHD7 regulates cardiovascular development through ATP-dependent and -independent activities. Proc Natl Acad Sci U S A. 2020 Nov 17;117(46):28847-28858
• All: 1 reference(s)