B6.Cg-Sumf1tm1.1Clear/Cnrm
| Status | Available to order |
| EMMA ID | EM:08924 |
| International strain name | B6.Cg-Sumf1tm1.1Clear/Cnrm |
| Alternative name | Sumf1 floxed |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Sumf1tm1.1Clear, |
| Gene/Transgene symbol | Sumf1 |
Information from provider
| Provider | Andrea Ballabio |
| Provider affiliation | Telethon Institute of Genetics and Medicine |
| Genetic information | This mouse presents two loxP sites flanking exon4 of sulfatase modifying factor 1 (Sumf1) gene. Cre recombination causes a frameshift mutation and as consequence a premature STOP codon. |
| Phenotypic information | Homozygous:Sumf1 flox/flox; GFAP-Cre mice present some neurological symptoms, such as epileptic episodes and behavioral abnormalities. Sumf1 flox/flox; Nestin-Cre mice have a similar phenotype but more severe and also body weight is affected.Heterozygous:Heterozygous mice do not present any phenotype. |
| Breeding history | Positive clones were injected into albino C57BL/6J blastocysts. Then, after confirmation of germline transmission of the floxed allele in offspring, mice were crossed with mice expressing FLP recombinase to remove the neo cassette. The FLP mice also presented C57BL/6J background. |
| References |
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| 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
Orphanet associated rare diseases, based on orthologous gene matching
- Multiple sulfatase deficiency / Orphanet_585
Literature references
- Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.;Di Malta Chiara, Fryer John D, Settembre Carmine, Ballabio Andrea, ;2012;Proceedings of the National Academy of Sciences of the United States of America;109;E2334-42; 22826245