All Phenotypes Htt<tm5Mem> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Htt^tm5Mem
targeted mutation 5, Marcy E MacDonald
MGI:1861935

Summary

11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Htt^tm5Mem/Htt^tm5Mem	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3698042
hm2	Htt^tm5Mem/Htt^tm5Mem	STOCK Htt^tm5Mem/J	MGI:5429330
ht3	Htt^tm5Mem/Htt⁺	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3698041
cx4	Fan1^em1Mem/Fan1^em1Mem Htt^tm5Mem/Htt⁺ Mlh1^tm1Rak/Mlh1^tm1Rak	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:6489857
cx5	Htt^tm5Mem/Htt⁺ Msh2^tm1Htr/Msh2^tm1Htr	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * CD-1 * FVB/N	MGI:4429638
cx6	Htt^tm5Mem/Htt⁺ Ubr5^em1Mem/Ubr5⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:6489874
cx7	Htt^tm5Mem/Htt⁺ Ubr5^em2Mem/Ubr5^em2Mem	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:6489877
cx8	Htt^tm5Mem/Htt⁺ Rrm2b^em1Mem/Rrm2b⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:6489868
cx9	Fan1^em1Mem/Fan1^em1Mem Htt^tm5Mem/Htt⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:6489856
cx10	Htt^tm5Mem/Htt⁺ Mtmr10^em1Mem/Mtmr10^em1Mem	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:6489865
cx11	Fan1^em2Mem/Fan1^em2Mem Htt^tm5Mem/Htt⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:6489862

Allelic Composition	Htt^tm5Mem/Htt^tm5Mem
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htt^tm5Mem mutation (2 available); any Htt mutation (178 available)

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

nervous system

abnormal striatum morphology ( J:60937 , J:111237 )

• the levels of both the endogenous excitotoxin quinolinic acid (QUIN) and its bioprecursor, 3-hydroxykynurenine (3-HK) are increased in the striatum beginning at 15 months of age, similarly to that seen in Huntington disease patients (J:111237)

abnormal medium spiny neuron morphology ( J:60937 )

• exhibit relocation of the mutant protein to the nucleus in medium sized spiny neurons and much later, the formation of morphologic nuclear inclusions (at around 10 months) and insoluble aggregate that are hallmarks of Huntington's Disease in humans

abnormal cerebral cortex morphology ( J:111237 )

• QUIN and 3-HK levels are increased in the cortex beginning at 15 months of age, as seen in patients with Huntington disease

neuronal intranuclear inclusions ( J:60937 )

• observed at 10 months

abnormal nervous system physiology ( J:99425 )

• between 8 and 12 weeks of age, striatal mitochondria develops resistance to calcium, becoming equally sensitive to calcium as cortical mitochondria, whereas in wild-type, striatal mitochondria is more sensitive to calcium than cortical mitochondria

behavior/neurological

abnormal behavior ( J:99425 )

• onset of persistent rubbing and irritability from 12 to 16 months of age

limb grasping ( J:99425 )

• onset of clasping behavior from 12 to 16 months of age

tremors ( J:99425 )

• onset of trembling from 12 to 16 months of age

decreased locomotor activity ( J:99425 )

• onset of hypoactivity from 12 to 16 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:60937 , J:99425 , J:111237

Allelic Composition	Htt^tm5Mem/Htt^tm5Mem
Genetic Background	STOCK Htt^tm5Mem/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htt^tm5Mem mutation (2 available); any Htt mutation (178 available)

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

behavior/neurological

behavior/neurological phenotype ( J:185262 )

• mice do not exhibit hypoactivity or rearing in open field test that differs significantly from controls

• mice do not exhibit a deterioration in grip strength as compared to controls

• mice do not exhibit a decrease in climbing activity

• stride length, splay length and base are similar to controls

• dark preference in dark/light choice test is similar to controls

abnormal motor coordination/balance ( J:185262 )

• homozygous males perform better than wild type controls on rotarod test

• homozygous females perform slightly worse than controls at the oldest ages

growth/size/body

decreased body weight ( J:185262 )

• decrease in body weight is decreased by 28 weeks in both genders

nervous system

nervous system phenotype ( J:185262 )

N	• mice do not exhibit alterations in startle reflex or in prepulse inhibition

Allelic Composition	Htt^tm5Mem/Htt⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htt^tm5Mem mutation (2 available); any Htt mutation (178 available)

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

nervous system

abnormal striatum morphology ( J:60937 )

abnormal medium spiny neuron morphology ( J:60937 )

• exhibit relocation of the mutant protein to the nucleus in medium sized spiny neurons and much later, the formation of morphologic nuclear inclusions and insoluble aggregate that are hallmarks of Huntington's Disease in humans, although at a slower rate than in homozygotes

neuronal intranuclear inclusions ( J:60937 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:60937

Allelic Composition	Fan1^em1Mem/Fan1^em1Mem Htt^tm5Mem/Htt⁺ Mlh1^tm1Rak/Mlh1^tm1Rak
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fan1^em1Mem mutation (0 available); any Fan1 mutation (99 available)
Htt^tm5Mem mutation (2 available); any Htt mutation (178 available)
Mlh1^tm1Rak mutation (1 available); any Mlh1 mutation (44 available)

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

cellular

cellular phenotype ( J:298297 )

N	• Htt CAG repeat stability is normal

Allelic Composition	Htt^tm5Mem/Htt⁺ Msh2^tm1Htr/Msh2^tm1Htr
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * CD-1 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htt^tm5Mem mutation (2 available); any Htt mutation (178 available)
Msh2^tm1Htr mutation (1 available); any Msh2 mutation (95 available)

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

nervous system

neuronal intranuclear inclusions ( J:81666 )

• intranuclear accumulation of mutant huntingtin is delayed 5 months compared to in Htt^tm5Mem heterozygotes

Allelic Composition	Htt^tm5Mem/Htt⁺ Ubr5^em1Mem/Ubr5⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htt^tm5Mem mutation (2 available); any Htt mutation (178 available)
Ubr5^em1Mem mutation (0 available); any Ubr5 mutation (117 available)

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

cellular

abnormal cell physiology ( J:298297 )

• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age

Allelic Composition	Htt^tm5Mem/Htt⁺ Ubr5^em2Mem/Ubr5^em2Mem
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htt^tm5Mem mutation (2 available); any Htt mutation (178 available)
Ubr5^em2Mem mutation (0 available); any Ubr5 mutation (117 available)

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

cellular

abnormal cell physiology ( J:298297 )

• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age

Allelic Composition	Htt^tm5Mem/Htt⁺ Rrm2b^em1Mem/Rrm2b⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htt^tm5Mem mutation (2 available); any Htt mutation (178 available)
Rrm2b^em1Mem mutation (0 available); any Rrm2b mutation (27 available)

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

cellular

cellular phenotype ( J:298297 )

N	• Htt CAG repeat stability is normal

Allelic Composition	Fan1^em1Mem/Fan1^em1Mem Htt^tm5Mem/Htt⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

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

cellular

abnormal cell physiology ( J:298297 )

• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age

increased cellular sensitivity to alkylating agents ( J:298297 )

• in response to mitomycin C in embryonic fibroblasts

Allelic Composition	Htt^tm5Mem/Htt⁺ Mtmr10^em1Mem/Mtmr10^em1Mem
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htt^tm5Mem mutation (2 available); any Htt mutation (178 available)
Mtmr10^em1Mem mutation (0 available); any Mtmr10 mutation (33 available)

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

cellular

abnormal cell physiology ( J:298297 )

• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age

Allelic Composition	Fan1^em2Mem/Fan1^em2Mem Htt^tm5Mem/Htt⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fan1^em2Mem mutation (0 available); any Fan1 mutation (99 available)
Htt^tm5Mem mutation (2 available); any Htt mutation (178 available)

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

cellular

abnormal cell physiology ( J:298297 )

• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age

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