IMPC phenotypes (gene matching)
- decreased respiratory quotient / IMPC
B6.Cg-Cdkl5tm1.2Cogr/Cnrm
| Status | Available to order |
| EMMA ID | EM:07212 |
| 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