Phenotypes Associated with This Genotype

Genotype
MGI:3584455

• Allelic Composition: Gt(ROSA)26Sor^{tm1(HD*103Q)Xwy}/?; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

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

nervous system

abnormal cerebral cortex pyramidal cell morphology ( J:99759 )

• 35 of 37 neurons display dysmorphic axons compared to only 5 of 40 wild-type axons in cortex in 6-month old mice

cerebral cortex pyramidal cell degeneration ( J:99759 )

• at 1 year of age, an increase in degenerating neurons, including pyramidal neurons, is seen in the cortex compared to wild-type mice

gliosis ( J:99759 )

• the density of GFAP+ cells is increased 9-fold and 6-fold in the cortex and striatum, respectively, compared to wild-type littermates at 6 months

neurodegeneration ( J:99759 )

• at 1 year of age, an increase in degenerating neurons, including pyramidal neurons, is seen in the cortex compared to wild-type mice

abnormal inhibitory postsynaptic currents ( J:99759 )

• spontaneous inhibitory postsynaptic current frequency but not amplitude is significantly decreased; however no change in spontaneous excitatory postsynaptic currents is seen

behavior/neurological

decreased locomotor activity ( J:99759 )

• activity is reduced at 6, 8, and 10 months of age but not at 2 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:99759