About   Help   FAQ
Cdkl5tm1.2Cogr
Targeted Allele Detail
Nomenclature
Symbol: Cdkl5tm1.2Cogr
Name: cyclin-dependent kinase-like 5; targeted mutation 1.2, Cornelius Gross
MGI ID: MGI:5573238
Synonyms: Cdkl5KO
Gene: Cdkl5  Location: ChrX:160784308-160994681 bp, - strand  Genetic Position: ChrX, 73.95 cM
Hind-limb clasping in Cdkl5tm1.2Cogr/Cdkl5tm1.2Cogr mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:209635
Parent Cell Line:  A8 (ES Cell)
Strain of Origin:  (C57BL/6 x 129P2/OlaHsd)F1
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 4, which was flanked by loxP sites 806 bp upstream and 347 bp downstream of the exon, has been deleted by cre recombinase, and a FRT-flanked neomycin resistance cassette that followed the second loxP site was deleted by flp recombinase. CDKL5 protein was shown to be present at reduced levels in female mice heterozygous for the mutation and absent in homozygous mutant female and hemizygous male mice by immunoblot analysis of whole brain extracts and immunofluorescent imaging of brain sections. (J:209635)
Inheritance:    Semidominant
Generation of the Cdkl5tm1Cogr, Cdkl5tm1.1Cogr, and Cdkl5tm1.2Cogr alleles
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Cdkl5 Mutation:  13 strains or lines available
Notes
According to EMMA, the parental ES cell line is A9, although ES cell line A8 was given in the original publication J:209635.
References
Original:  J:209635 Amendola E, et al., Mapping Pathological Phenotypes in a Mouse Model of CDKL5 Disorder. PLoS One. 2014;9(5):e91613
All:  15 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
04/13/2021
MGI 6.16
The Jackson Laboratory