IMPC phenotypes (gene matching)
B6.Cg-Sumf1tm1.1Clear/Cnrm
| Status | Available to order |
| EMMA ID | EM:08924 |
| Citation information | RRID:IMSR_EM:08924 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.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
MGI phenotypes (gene matching)
- abnormal long bone epiphysis morphology / MGI
- abnormal long bone metaphysis morphology / MGI
- abnormal microglial cell morphology / MGI
- kyphosis / MGI
- abnormal craniofacial morphology / MGI
- short limbs / MGI
- tremors / MGI
- decreased Purkinje cell number / MGI
- decreased body size / MGI
- limb grasping / MGI
- postnatal growth retardation / MGI
- seizures / MGI
- premature death / MGI
- abnormal astrocyte morphology / MGI
- abnormal macrophage morphology / MGI
- abnormal joint morphology / MGI
- abnormal thoracic vertebrae morphology / MGI
- increased neuron apoptosis / MGI
- increased hepatocyte apoptosis / MGI
- abnormal cerebellar cortex morphology / MGI
- decreased length of long bones / MGI
- increased macrophage cell number / MGI
- CNS inflammation / MGI
- decreased cranium height / MGI
- postnatal lethality, incomplete penetrance / MGI
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