Phenotypes Associated with This Genotype

Genotype
MGI:3757568

• Allelic Composition: Tg(HDexon1)62Gpb/0
• Genetic Background: involves: C57BL/6 * CBA

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

nervous system

decreased brain weight ( J:42085 )

• reduction in brain weight by 5 weeks

abnormal striatum morphology ( J:42085 )

• immunoreactive htt is detected in the striatum at 4.5 weeks

abnormal cerebral cortex morphology ( J:42085 )

• immunoreactive htt is detected in the cortex beginning at 3.5 weeks

abnormal neuron morphology ( J:42085 )

• striatal neurons have prominent and frequent indentations of the nuclear membrane and an apparent increase in the clustering and number of nuclear pores by 10-12 weeks of age

neuronal intranuclear inclusions ( J:42085 )

• inclusions are observed within neurons of cerebral cortex, striatum, cerebellum, spinal cord and to a much lesser degree in the hippocampus, thalamus, globus pallidus and substantia nigra

• inclusions appear in the cerebral cortex before they can be detected in the striatum

• inclusions are ubiquitinated by 5-6 weeks and can be detected by ultrastructural analysis by 8 weeks

• htt immunoreactive inclusions are seen in approximately 20% of neurons

• in the striatum, ultrastructural analysis of inclusions reveals a prominent, roughly circular, pale structure

• inclusions are granular with occasional filamentous structures around the periphery; they are larger than the nucleolus and occupy 1% of nuclear volume

growth/size/body

decreased body weight ( J:42085 )

• progressive loss of body weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:42085