B6;129-Kidins220tm1.1Fces/Cnrm
| Status | Available to order |
| EMMA ID | EM:14666 |
| Citation information | RRID:IMSR_EM:14666 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;129-Kidins220tm1.1Fces/Cnrm |
| Alternative name | Kidins220floxed |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Kidins220tm1.1Fces |
| Gene/Transgene symbol | Kidins220 |
Information from provider
| Provider | Fabrizia Cesca |
| Provider affiliation | Department of Life Sciences, University of Trieste |
| Additional owner | Prof Giampietro Schiavo, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. |
| Genetic information | A Kidins220 cDNA encoding exon 16 and polyA cassette flanked by two loxP sites, was inserted in the unique NruI site within exon 16 of the mouse Kidins220 gene. In Kidins220 lox/lox mice, Kidins220 mRNA is transcribed under the control of its endogenous promoter, generating the full-length protein (Cesca et al, Cell Death Diff, 2012). The floxed allele is hypomorph, likely because of the absence of the splicing cassette, which is located in the C-terminus-encoding part of the endogenous gene. |
| Phenotypic information | Homozygous:When in homozygosis, males are not fertile, while lox/lox females breed normally. Homozygous lox/lox mice show a reduced expression of full length Kidins220 and a percentage of them develop ventriculomegaly, a neurodevelopmental abnormality often associated to intellectual disability (del Puerto et al, Mol Psychiatry 2021).Heterozygous:The mouse strain kept in heterozygosis is viable, with normal life span and normal breeding capabilities. |
| Breeding history | Mice have been always bred on C57BL/6 background. |
| References |
|
| Homozygous fertile | females only |
| 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
Orphanet associated rare diseases, based on orthologous gene matching
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome / Orphanet_521390
Literature references
- Kidins220 deficiency causes ventriculomegaly via SNX27-retromer-dependent AQP4 degradation.;Del Puerto Ana, Pose-Utrilla Julia, Simón-García Ana, López-Menéndez Celia, Jiménez Antonio J, Porlan Eva, Pajuelo Luis S M, Cano-García Guillermo, Martí-Prado Beatriz, Sebastián-Serrano Álvaro, Sánchez-Carralero Marina P, Cesca Fabrizia, Schiavo Giampietro, Ferrer Isidro, Fariñas Isabel, Campanero Miguel R, Iglesias Teresa, ;2021;Molecular psychiatry;26;6411-6426; 34002021
- Kidins220/ARMS mediates the integration of the neurotrophin and VEGF pathways in the vascular and nervous systems.;Cesca F, Yabe A, Spencer-Dene B, Scholz-Starke J, Medrihan L, Maden C H, Gerhardt H, Orriss I R, Baldelli P, Al-Qatari M, Koltzenburg M, Adams R H, Benfenati F, Schiavo G, ;2012;Cell death and differentiation;19;194-208; 22048155
- Kidins220/ARMS binds to the B cell antigen receptor and regulates B cell development and activation.;Fiala Gina J, Janowska Iga, Prutek Fabiola, Hobeika Elias, Satapathy Annyesha, Sprenger Adrian, Plum Thomas, Seidl Maximilian, Dengjel Jörn, Reth Michael, Cesca Fabrizia, Brummer Tilman, Minguet Susana, Schamel Wolfgang W A, ;2015;The Journal of experimental medicine;212;1693-708; 26324445