MGI phenotypes (allele matching)
B6NCrl.Cg-Snap25tm1Bark/Kctt
| Status | Available to order |
| EMMA ID | EM:10356 |
| International strain name | B6NCrl.Cg-Snap25tm1Bark/Kctt |
| Alternative name | SNAP-25b KO Neo-containing |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Snap25tm1Bark, |
| Gene/Transgene symbol | Snap25 |
Information from provider
| Provider | Christina Bark |
| Provider affiliation | MMK, Karolinska Institutet |
| Genetic information | The single copy gene for the presynaptic protein SNAP-25 has two alternative exon 5 sequences, a and b. In this strain, the exon 5b has been substituted to an additional exon 5a, but keeping alternative splicing intact. In the 2B line there is also a Tkneo gene still present in intron 6 of the gene, affecting the expression levels of total SNAP-25. |
| Phenotypic information | Homozygous:Mice do not increase in weight as their siblings with other genotypes, they get seizures and have balance problems. Described in Johansson et al., PLoS Genetics 2008.Heterozygous:Not an obvious phenotype. |
| Breeding history | The mice have been backcrossed for 37 generations on C57BL/6NCrl background. New B6 mice have been crossed into the strain for every 4-5 generations to avoid genetic drift. The mice are not fertile as homozygous mutants. This particular strain has a strong phenotype due to reduced expression of SNAP-25. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
| Animals used for archiving | heterozygous C57BL/6NCrl |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Presynaptic congenital myasthenic syndromes / Orphanet_98914
Literature references
- An ancient duplication of exon 5 in the Snap25 gene is required for complex neuronal development/function.;Johansson Jenny U, Ericsson Jesper, Janson Juliette, Beraki Simret, Stanić Davor, Mandic Slavena A, Wikström Martin A, Hökfelt Tomas, Ogren Sven Ove, Rozell Björn, Berggren Per-Olof, Bark Christina, ;2008;PLoS genetics;4;e1000278; 19043548