MGI phenotypes (allele matching)
B6NCrl.Cg-Snap25tm1Bark/Kctt
| Status | Available to order |
| EMMA ID | EM:10356 |
| Citation information | RRID:IMSR_EM:10356 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 | 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 males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Presynaptic congenital myasthenic syndromes / Orphanet_98914
MGI phenotypes (gene matching)
- increased white adipose tissue amount / MGI
- myoclonus / MGI
- tremors / MGI
- thin diaphragm muscle / MGI
- abnormal cerebral cortex morphology / MGI
- convulsive seizures / MGI
- abnormal skin condition / MGI
- increased body weight / MGI
- decreased body weight / MGI
- decreased body size / MGI
- delayed eyelid opening / MGI
- increased anxiety-related response / MGI
- abnormal locomotor behavior / MGI
- ataxia / MGI
- hyperactivity / MGI
- hypoactivity / MGI
- no spontaneous movement / MGI
- impaired coordination / MGI
- abnormal object recognition memory / MGI
- abnormal spatial learning / MGI
- unresponsive to tactile stimuli / MGI
- disheveled coat / MGI
- increased circulating triglyceride level / MGI
- hyperglycemia / MGI
- abnormal blood vessel morphology / MGI
- decreased embryo size / MGI
- abnormal dopamine level / MGI
- infertility / MGI
- respiratory failure / MGI
- seizures / MGI
- abnormal motor capabilities/coordination/movement / MGI
- increased circulating insulin level / MGI
- premature death / MGI
- abnormal brain morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal CNS synaptic transmission / MGI
- abnormal intercostal muscle morphology / MGI
- hepatic steatosis / MGI
- akinesia / MGI
- decreased glucagon secretion / MGI
- decreased vertical activity / MGI
- increased thigmotaxis / MGI
- blotchy skin / MGI
- abnormal PNS synaptic transmission / MGI
- abnormal endplate potential / MGI
- enhanced paired-pulse facilitation / MGI
- decreased paired-pulse facilitation / MGI
- no phenotypic analysis / MGI
- decreased insulin secretion / MGI
- decreased width of hypertrophic chondrocyte zone / MGI
- abnormal pancreatic beta cell physiology / MGI
- abnormal insulin secretion / MGI
- decreased synaptic glutamate release / MGI
- abnormal miniature excitatory postsynaptic currents / MGI
- increased circulating cholesterol level / MGI
- improved glucose tolerance / MGI
- abnormal serotonin level / MGI
- insulin resistance / MGI
- behavior/neurological phenotype / MGI
- taste/olfaction phenotype / MGI
- increased susceptibility to diet-induced obesity / MGI
- increased circulating leptin level / MGI
- increased body mass index / MGI
- impaired hearing / MGI
- abnormal hippocampus CA3 region morphology / MGI
- increased white fat cell size / MGI
- decreased prepulse inhibition / MGI
- abnormal impulsive behavior control / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- decreased circulating ghrelin level / MGI
- increased food intake / MGI
- decreased food intake / MGI
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