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
IMPC phenotypes (gene matching)
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
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