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Phenotypes Associated with This Genotype
Genotype
MGI:5902076
Allelic
Composition
Slc9a6tm1Dgen/Slc9a6+
Genetic
Background
B6.129P2-Slc9a6tm1Dgen/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc9a6tm1Dgen mutation (1 available); any Slc9a6 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• females exhibit deficits in visuospatial memory in the hippocampus-dependent object placement test at 20-22 weeks of age, failing to display a preference for a relocated object
• females exhibit motor coordination defects on the balance beam
• however, no females exhibit obvious ataxia at 32-34 weeks of age and females do not differ in track length, rears, or anxiety-like behavior

homeostasis/metabolism
• GM2 ganglioside accumulation in neurons of hippocampal CA3/CA4 regions and the amygdala

nervous system
• GM2 ganglioside accumulation in neurons of the amygdala
• GM2 ganglioside accumulation in neurons of hippocampal CA3/CA4 regions
• GM2 ganglioside accumulation in neurons of hippocampal CA3/CA4 regions
• progressive cerebellar Purkinje cell degeneration that is already seen in 4 week old mice
• 32 week old females show a lower extent of Purkinje cell degeneration than males
• 5 month old mice exhibit decreased Purkinje cell density
• females exhibit secondary gliosis in the molecular layer of lobules affected by Purkinje cell degeneration but to a lower degree than in males

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Christianson syndrome DOID:0060825 OMIM:300243
J:229166


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
01/04/2022
MGI 6.17
The Jackson Laboratory