IMPC phenotypes (gene matching)
- decreased respiratory quotient / IMPC
B6.Cg-Cdkl5tm1.2Cogr/Cnrm
| Status | Available to order |
| EMMA ID | EM:07212 |
| Citation information | RRID:IMSR_EM:07212 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6.Cg-Cdkl5tm1.2Cogr/Cnrm |
| Alternative name | Cdkl5KO B6N |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Cdkl5tm1.2Cogr |
| Gene/Transgene symbol | Cdkl5 |
Information from provider
| Provider | Cornelius Gross |
| Provider affiliation | Mouse Biology Unit, European Molecular Biology Laboratory |
| Additional owner | Dr. Elena Amendola, EMBL Mouse Molecular Unit, Monterotondo, Italy |
| Genetic information | Cdkl5 exon 4 was targeted by homologous recombination. Exon 4 was flanked by two loxP sites followed by neomycin cassette flanked by FRT sites used for removal the cassette. Hprt-cre mice were used to remove exon 4 to generate Cdkl5 knock-out mice. |
| Phenotypic information | Heterozygous and homozygous knock-out mice displayed limb clasping, and motor and respiratory disturbances at approximately six weeks of age. Dendritic arborization was significantly reduced in cortical neurons from knock-out mice and evidence emerged for altered signaling in key intracellular pathways. |
| Breeding history | Mutant mice were crossed with C57BL/6J flp-deleter mice (Farley et al., 2000) made congenic in B6N genetic background (N>10). Then mice were crossed with C57BL/6J cre-deleter mice (Tang et al., 2002) made congenic in B6N genetic background (N>10). After that mice were bred for 7 generations in a C57BL/6N genetic background. The first 2 matings (flp-deleter and cre-deleter strains) were not considered in the calculation of the generations. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- CDKL5-related epileptic encephalopathy / Orphanet_505652
- Early infantile epileptic encephalopathy / Orphanet_1934
- Atypical Rett syndrome / Orphanet_3095
- West syndrome / Orphanet_3451
Literature references
- Mapping pathological phenotypes in a mouse model of CDKL5 disorder.;Amendola Elena, Zhan Yang, Mattucci Camilla, Castroflorio Enrico, Calcagno Eleonora, Fuchs Claudia, Lonetti Giuseppina, Silingardi Davide, Vyssotski Alexei L, Farley Dominika, Ciani Elisabetta, Pizzorusso Tommaso, Giustetto Maurizio, Gross Cornelius T, ;2014;PloS one;9;e91613; 24838000
- The small steps that lead to big impact: translating therapeutics from idea to reality for the CDKL5 deficiency disorder community.;Jaksha Amanda, Bishop Marissa, Utley Karen, Grabenstatter Heidi L, ;2024;Therapeutic advances in rare disease;5;26330040241275673; 39247150