Phenotypes Associated with This Genotype

Genotype
MGI:5902076

• Allelic Composition: Slc9a6^tm1Dgen/Slc9a6⁺
• Genetic Background: B6.129P2-Slc9a6^tm1Dgen/J

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

behavior/neurological

abnormal spatial reference memory ( J:229166 )

♀ • 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

impaired coordination ( J:229166 )

♀ • 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

increased ganglioside level ( J:229166 )

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

nervous system

abnormal amygdala morphology ( J:229166 )

♀ • GM2 ganglioside accumulation in neurons of the amygdala

abnormal hippocampus CA3 region morphology ( J:229166 )

♀ • GM2 ganglioside accumulation in neurons of hippocampal CA3/CA4 regions

abnormal hippocampus CA4 region morphology ( J:229166 )

♀ • GM2 ganglioside accumulation in neurons of hippocampal CA3/CA4 regions

Purkinje cell degeneration ( J:229166 )

♀ • 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

decreased Purkinje cell number ( J:262453 )

♀ • 5 month old mice exhibit decreased Purkinje cell density

gliosis ( J:229166 )

♀ • 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