Chd8^tm2.1Kei
Targeted Allele Detail

Summary

• Symbol: Chd8^tm2.1Kei
• Name: chromodomain helicase DNA binding protein 8; targeted mutation 2.1, Keiichi I Nakayama
• MGI ID: MGI:6144040
• Synonyms: Chd8^deltaL
• Gene: Chd8 Location: Chr14:52435608-52495237 bp, - strand Genetic Position: Chr14, 26.84 cM
• Alliance: Chd8^tm2.1Kei page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:235128
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Modified isoform(s))
• Mutation: Intragenic deletion
• Mutation details: A pair of loxP sites with a loxP-flanked neo gene cassette flanking alternatively spliced exons 11 to 13 was generated. Transient Cre expression in ES cells resulted in the deletion of exons 11-13 and the lack of expression of the long isoform of the Chd8 gene. The short isoform is expressed. (J:235128)

Disease models

Expression

In Mice Carrying this Mutation:	53 assay results
In Structures Affected by this Mutation:	3 anatomical structure(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:235128 Katayama Y, et al., CHD8 haploinsufficiency results in autistic-like phenotypes in mice. Nature. 2016 Sep 29;537(7622):675-679
• All: 6 reference(s)