About   Help   FAQ
Cdkl5tm2.1Joez
Targeted Allele Detail
Nomenclature
Symbol: Cdkl5tm2.1Joez
Name: cyclin-dependent kinase-like 5; targeted mutation 2.1, Zhaolan Zhou
MGI ID: MGI:5790794
Synonyms: CDKL5 R59X
Gene: Cdkl5  Location: ChrX:160784308-160994681 bp, - strand  Genetic Position: ChrX, 73.95 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:276174
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6N
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA targeting vector was designed to insert a FRT-flanked neomycin resistance (neo) cassette downstream of exon 5, and a single nucleotide change of C to T, leading to a nonsense mutation at arginine 59 (R59X). Flp-mediated recombination removed the neo cassette. (J:276174)
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 Cdkl5 Mutation:  13 strains or lines available
References
Original:  J:276174 Tang S, et al., Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder. Nat Commun. 2019 Jun 14;10(1):2655
All:  2 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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/07/2020
MGI 6.14
The Jackson Laboratory