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Chd8tm2.1Kei
Targeted Allele Detail
Summary
Symbol: Chd8tm2.1Kei
Name: chromodomain helicase DNA binding protein 8; targeted mutation 2.1, Keiichi I Nakayama
MGI ID: MGI:6144040
Synonyms: Chd8deltaL
Gene: Chd8  Location: Chr14:52435608-52495237 bp, - strand  Genetic Position: Chr14, 26.84 cM
Alliance: Chd8tm2.1Kei 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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
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:  69 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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/22/2022
MGI 6.22
The Jackson Laboratory