Phenotypes associated with this allele

• Allele Symbol: Htt^tm1Mfc
• Allele Name: targeted mutation 1, Marie-Francoise Chesselet
• Allele ID: MGI:2675580
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Htt^tm1Mfc/Htt^tm1Mfc	involves: 129S1/Sv * C57BL/6	MGI:2675620
cx2	Htt^tm1Mfc/Htt^+ Ppargc1a^tm1Dpk/Ppargc1a^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3698750

Genotype
MGI:2675620

hm1

• Allelic Composition: Htt^tm1Mfc/Htt^tm1Mfc
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

behavior/neurological

increased grooming behavior ( J:141673 )

• by females

abnormal motor capabilities/coordination/movement ( J:85298 )

• behavioral symptoms preceed neuropathology which becomes intense and widespread at 4 months of age

abnormal locomotor activation ( J:141673 )

abnormal gait ( J:85298 )

• gait abnormalities develop by 1 year of age, with smaller stride lengths

short stride length ( J:85298 )

• develops by 1 year of age

decreased vertical activity ( J:141673 )

• males do not display the high level of climbing activity shown by control males

decreased locomotor activity ( J:85298 , J:141673 )

• the observed hyperactivity is followed by hypoactivity at 4 months of age (J:85298)

• less time spent on a running wheel during the light phase (J:141673)

hyperactivity ( J:141673 )

• females do more dark phase running than controls

increased vertical activity ( J:85298 )

• increase in rearing at 1 month of age

increased locomotor activity ( J:85298 )

• increase in locomotor activity and rearing at 1 month of age

nervous system

abnormal brain morphology ( J:85298 )

• exhibit neuropathological aggregates of mutant protein in various regions of the brain that appear several months after the onset of behavioral symptoms

• regions in which nuclear and neuropil aggregates are found include the striatum, cerebral cortex, hippocampus, pallidum, globus pallidus, and amygdala

taste/olfaction

abnormal olfactory system morphology ( J:85298 )

• exhibit the progressive appearance of neuropathological mutant protein aggregates in the olfactory tubercle, olfactory bulb, anterior olfactory nucleus, piriform cortex, and entorhinal cortex

growth/size/body

decreased body weight ( J:141673 )

• female mice weigh less than controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:85298 , J:141673

Genotype
MGI:3698750

cx2

• Allelic Composition: Htt^tm1Mfc/Htt⁺; Ppargc1a^tm1Dpk/Ppargc1a⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

behavior/neurological

impaired coordination ( J:116058 )

• rotarod performance is severely impaired and much worse than in mice carrying the Hdh^tm1Mfc knock-in allele

nervous system

abnormal striatum morphology ( J:116058 )

• striatal neuronal volumes are significantly decreased in 6-month old mutants compared to mice carrying the Hdh^tm1Mfc knock-in allele

neuron degeneration ( J:116058 )

• early neuronal degeneration appears in the striatum and the medial septal nucleus by 3 months of age

• mutants exhibit increased susceptibility to 3-nitropropionic acid, developing larger striatal lesions and increased number of degenerating neurons compared to mice carrying the Hdh^tm1Mfc knock-in allele