Phenotypes Associated with This Genotype

Genotype
MGI:5766793

• Allelic Composition: St3gal5^tm1Skoz/St3gal5^tm1Skoz
• Genetic Background: Not Specified

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal glycosphingolipid level ( J:229230 )

• mutant mice are unable to synthesize GM3 ganglioside, a simple and widely distributed glycosphingolipid

• major brain gangliosides that are normally present in wild-type mice (GM1a, GD1b, and GT1b) are absent in the extract of mutant brain synaptosomes

• however, mutant mice express major ganglioside species that co-migrate with GM1b and GD1alpha gangliosides of the alpha-series

abnormal xenobiotic induced morbidity/mortality ( J:229230 )

• following i.v. injection of BoNT/CB-19 at an appropriate dose, mutant mice show prolonged survival time with the toxicity value reduced to 0.7% of that in wild-type controls

• in contrast, BoNT/003-9 and BoNT/1873 remain toxic and the i.p. LD50 dose estimated by survival time is ~70% of that in wild-type controls

nervous system

abnormal synaptic glutamate release ( J:229230 )

• in vitro, Clostridium botulinum type C strain neurotoxin (BoNT/CB-19) fails to induce a concentration-dependent inhibition of glutamate release in mutant cerebellar granule cells in response to high K+ treatment, unlike in wild-type cells

• in contrast, BoNT/003-9 (a C/D mosaic toxin) and BoNT/1873 (type D toxin) still elicit an inhibitory effect on glutamate release, to the same extent as in wild-type granule cells

mortality/aging

abnormal xenobiotic induced morbidity/mortality ( J:229230 )

• following i.v. injection of BoNT/CB-19 at an appropriate dose, mutant mice show prolonged survival time with the toxicity value reduced to 0.7% of that in wild-type controls

• in contrast, BoNT/003-9 and BoNT/1873 remain toxic and the i.p. LD50 dose estimated by survival time is ~70% of that in wild-type controls