Cdkl5^tm2.1Ics
Targeted Allele Detail

Summary

• Symbol: Cdkl5^tm2.1Ics
• Name: cyclin dependent kinase like 5; targeted mutation 2.1, Mouse Clinical Institute
• MGI ID: MGI:7616479
• Gene: Cdkl5 Location: ChrX:159567241-159777673 bp, - strand Genetic Position: ChrX, 73.95 cM
• Alliance: Cdkl5^tm2.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342743
• Parent Cell Line: BD10 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A loxP site was inserted into intron 3 and an FRT site flanked neomycin resistance gene cassette and second loxP site were inserted into intron 4. The neo cassette was removed through subsequent Flp-mediated recombination, leaving exon 4 floxed. The KO allele created from this allele intends to replicate various human mutations associated with CDKL5 deficiency disorder (CDD) and early infantile epileptic encephalopathy 2 (EIEE2). (J:342743)

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: 20 strains or lines available

References

• Original: J:342743 Meziane H, et al., Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines. 2022 Dec 6;10(12)
• All: 1 reference(s)