IMPC phenotypes (gene matching)
- decreased respiratory quotient / IMPC
129S2.Cg-Cdkl5tm1.2Cogr/Cnrm
| Status | Available to order |
| EMMA ID | EM:09062 |
| International strain name | 129S2.Cg-Cdkl5tm1.2Cogr/Cnrm |
| Alternative name | CDKL5 KO/ 129S2/SvHsd |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Cdkl5tm1.2Cogr |
| Gene/Transgene symbol | Cdkl5 |
Information from provider
| Provider | Cornelius Gross |
| Provider affiliation | Developmental programming of behaviour, EMBL |
| 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 a Cdkl5 knock-out mouse. |
| Phenotypic information | Homozygous:Heterozygous 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.Heterozygous:Heterozygous 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 (N10). Then mice were crossed with C57BL/6J cre-deleter mice (Tang et al., 2002) made congenic in B6N genetic background (N10). 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. Finally the mice were crossed with 129S2/SvHsd for 10 generations. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | not known |
| 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