B6;129-Kidins220tm1.1Fces/Cnrm
| Status | Available to order |
| EMMA ID | EM:14666 |
| 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 mKidins220 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