B6.129-Afg3l2tm1.1Alfb/Cnrm
| Status | Available to order |
| EMMA ID | EM:12806 |
| International strain name | B6.129-Afg3l2tm1.1Alfb/Cnrm |
| Alternative name | Afg3l2(M665R) |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Afg3l2tm1.1Alfb, |
| Gene/Transgene symbol | Afg3l2 |
Information from provider
| Provider | Alfredo Brusco |
| Provider affiliation | Dept. of Medical Sciences, University of Torino |
| Genetic information | Knock-in mice, in which the pathogenic mutation p(M665R), associated with spinocerebellar ataxia type 28, has been introduced in the murine Afg3l2 gene. Heterozygotes develop ataxia at late age (>18 months). Homozygotes die perinatally. |
| Phenotypic information | Homozygous:Homozygotes die before or within hours of birth. Analysis of E16.5 embryos showed diffuse cardiac atrophy.Heterozygous:Heterozygotes developed ataxia at 18 months of age. |
| Breeding history | Founders have been backcrossed with C57BL/6 wild-type mice for more than 17 generations. |
| References |
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| Homozygous fertile | no |
| Homozygous viable | no |
| 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
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome / Orphanet_313772
- Spinocerebellar ataxia type 28 / Orphanet_101109
Literature references
- Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.;Mancini Cecilia, Hoxha Eriola, Iommarini Luisa, Brussino Alessandro, Richter Uwe, Montarolo Francesca, Cagnoli Claudia, Parolisi Roberta, Gondor Morosini Diana Iulia, Nicolò Valentina, Maltecca Francesca, Muratori Luisa, Ronchi Giulia, Geuna Stefano, Arnaboldi Francesca, Donetti Elena, Giorgio Elisa, Cavalieri Simona, Di Gregorio Eleonora, Pozzi Elisa, Ferrero Marta, Riberi Evelise, Casari Giorgio, Altruda Fiorella, Turco Emilia, Gasparre Giuseppe, Battersby Brendan J, Porcelli Anna Maria, Ferrero Enza, Brusco Alfredo, Tempia Filippo, ;2019;Neurobiology of disease;124;14-28; 30389403