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Phenotypes Associated with This Genotype
Genotype
MGI:4452118
cx25
Allelic
Composition
Galctwi/Galctwi
Il6tm1Kopf/Il6tm1Kopf
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * CE/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Galctwi mutation (1 available); any Galc mutation (46 available)
Il6tm1Kopf mutation (9 available); any Il6 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• the average onset of twitching is earlier in double homozygotes than mice homozygous only for twitcher (22.2 days of age versus 25.9 days of age respectively), although lifespan, body weight and frequency of twitching do not differ significantly

nervous system
• leakage of the blood-brain barrier is detected in the cerebrum, hindbrain, and cervical spinal cord as detected by horseradish peroxidase tail vein injection, and immunoglobulin and albumin immunohistochemistry
• lipopolysaccharide injection greatly enhances the blood-brain barrier disruption leading to death
• the deep cerebellar white matter shows a significant increase in periodic acid-Schiff staining cells and a trend toward increased lectin-positive cells relative to mice homozygous only for twitcher
• more exaggerated gliosis is found around some vessels and pial surfaces in the double mutants than in mice homozygous only for twitcher

cardiovascular system
• leakage of the blood-brain barrier is detected in the cerebrum, hindbrain, and cervical spinal cord as detected by horseradish peroxidase tail vein injection, and immunoglobulin and albumin immunohistochemistry
• lipopolysaccharide injection greatly enhances the blood-brain barrier disruption leading to death

homeostasis/metabolism
• hindbrain has TNF levels elevated above that found in mice homozygous only for twitcher and mice homozygous only for twitcher have significantly elevated TNF levels in hindbrain

immune system
• hindbrain has TNF levels elevated above that found in mice homozygous only for twitcher and mice homozygous only for twitcher have significantly elevated TNF levels in hindbrain


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory