Phenotypes Associated with This Genotype

Genotype
MGI:5432190

• Allelic Composition: Tg(YAC128)55Hay/Tg(YAC128)55Hay
• Genetic Background: FVB/N-Tg(YAC128)55Hay

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

nervous system

increased neuron apoptosis ( J:105728 )

• general increase in stress-induced apoptosis in primary cultures of striatal neurons

• in cultured striatal medium spiny neurons in response to mitochondria stress

increased susceptibility to neuronal excitotoxicity ( J:105723 , J:105728 )

• in medium spiny neurons in response to NMDA (500 um) exposure compared to wild-type and mice hemizygous for this transgene (J:105723)

• in cultured striatal medium spiny neurons following exposure to NMDA, the Ca2+ ionophore A23187, or KCl plus the L-type calcium channel agonist FPL 64176 (J:105728)

• apoptosis induced by KCl alone is greater than in mice homozygous for Tg(YAC72)2511Hay (J:105728)

abnormal striatum morphology ( J:105723 )

• decrease in striatal volume at 12 months of age

neuronal intranuclear inclusions ( J:105723 )

• at 18 months of age in the striatum and cortex

behavior/neurological

impaired coordination ( J:105723 )

• beginning at 4 months of age and becoming worse with age

• disease progression is slower than in mice hemizygous forTg(YAC128)53Hay but faster than in hemizygous mice

decreased locomotor activity ( J:105723 )

• approaches statistical significance at 12 months of age

cellular

increased neuron apoptosis ( J:105728 )

• general increase in stress-induced apoptosis in primary cultures of striatal neurons

• in cultured striatal medium spiny neurons in response to mitochondria stress

increased susceptibility to neuronal excitotoxicity ( J:105723 , J:105728 )

• in medium spiny neurons in response to NMDA (500 um) exposure compared to wild-type and mice hemizygous for this transgene (J:105723)

• in cultured striatal medium spiny neurons following exposure to NMDA, the Ca2+ ionophore A23187, or KCl plus the L-type calcium channel agonist FPL 64176 (J:105728)

• apoptosis induced by KCl alone is greater than in mice homozygous for Tg(YAC72)2511Hay (J:105728)

homeostasis/metabolism

increased susceptibility to neuronal excitotoxicity ( J:105723 , J:105728 )

• in medium spiny neurons in response to NMDA (500 um) exposure compared to wild-type and mice hemizygous for this transgene (J:105723)

• in cultured striatal medium spiny neurons following exposure to NMDA, the Ca2+ ionophore A23187, or KCl plus the L-type calcium channel agonist FPL 64176 (J:105728)

• apoptosis induced by KCl alone is greater than in mice homozygous for Tg(YAC72)2511Hay (J:105728)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:105723 , J:105728