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
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