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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Htttm5Mem
targeted mutation 5, Marcy E MacDonald
MGI:1861935
Summary 11 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Htttm5Mem/Htttm5Mem involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:3698042
hm2
Htttm5Mem/Htttm5Mem STOCK Htttm5Mem/J MGI:5429330
ht3
Htttm5Mem/Htt+ involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:3698041
cx4
Fan1em1Mem/Fan1em1Mem
Htttm5Mem/Htt+
Mlh1tm1Rak/Mlh1tm1Rak
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:6489857
cx5
Htttm5Mem/Htt+
Msh2tm1Htr/Msh2tm1Htr
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * CD-1 * FVB/N MGI:4429638
cx6
Fan1em2Mem/Fan1em2Mem
Htttm5Mem/Htt+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:6489862
cx7
Htttm5Mem/Htt+
Mtmr10em1Mem/Mtmr10em1Mem
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:6489865
cx8
Htttm5Mem/Htt+
Rrm2bem1Mem/Rrm2b+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:6489868
cx9
Htttm5Mem/Htt+
Ubr5em1Mem/Ubr5+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:6489874
cx10
Htttm5Mem/Htt+
Ubr5em2Mem/Ubr5em2Mem
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:6489877
cx11
Fan1em1Mem/Fan1em1Mem
Htttm5Mem/Htt+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:6489856


Genotype
MGI:3698042
hm1
Allelic
Composition
Htttm5Mem/Htttm5Mem
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation (2 available); any Htt mutation (179 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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)
• 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
• QUIN and 3-HK levels are increased in the cortex beginning at 15 months of age, as seen in patients with Huntington disease
• observed at 10 months
• 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
• onset of persistent rubbing and irritability from 12 to 16 months of age
• onset of clasping behavior from 12 to 16 months of age
• onset of trembling from 12 to 16 months of age
• 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




Genotype
MGI:5429330
hm2
Allelic
Composition
Htttm5Mem/Htttm5Mem
Genetic
Background
STOCK Htttm5Mem/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation (2 available); any Htt mutation (179 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• 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
• 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
• decrease in body weight is decreased by 28 weeks in both genders

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




Genotype
MGI:3698041
ht3
Allelic
Composition
Htttm5Mem/Htt+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation (2 available); any Htt mutation (179 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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

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




Genotype
MGI:6489857
cx4
Allelic
Composition
Fan1em1Mem/Fan1em1Mem
Htttm5Mem/Htt+
Mlh1tm1Rak/Mlh1tm1Rak
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fan1em1Mem mutation (0 available); any Fan1 mutation (98 available)
Htttm5Mem mutation (2 available); any Htt mutation (179 available)
Mlh1tm1Rak mutation (1 available); any Mlh1 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
N
• Htt CAG repeat stability is normal




Genotype
MGI:4429638
cx5
Allelic
Composition
Htttm5Mem/Htt+
Msh2tm1Htr/Msh2tm1Htr
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:
Htttm5Mem mutation (2 available); any Htt mutation (179 available)
Msh2tm1Htr mutation (1 available); any Msh2 mutation (95 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• intranuclear accumulation of mutant huntingtin is delayed 5 months compared to in Htttm5Mem heterozygotes




Genotype
MGI:6489862
cx6
Allelic
Composition
Fan1em2Mem/Fan1em2Mem
Htttm5Mem/Htt+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fan1em2Mem mutation (0 available); any Fan1 mutation (98 available)
Htttm5Mem mutation (2 available); any Htt mutation (179 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age




Genotype
MGI:6489865
cx7
Allelic
Composition
Htttm5Mem/Htt+
Mtmr10em1Mem/Mtmr10em1Mem
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation (2 available); any Htt mutation (179 available)
Mtmr10em1Mem mutation (0 available); any Mtmr10 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age




Genotype
MGI:6489868
cx8
Allelic
Composition
Htttm5Mem/Htt+
Rrm2bem1Mem/Rrm2b+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation (2 available); any Htt mutation (179 available)
Rrm2bem1Mem mutation (0 available); any Rrm2b mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
N
• Htt CAG repeat stability is normal




Genotype
MGI:6489874
cx9
Allelic
Composition
Htttm5Mem/Htt+
Ubr5em1Mem/Ubr5+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation (2 available); any Htt mutation (179 available)
Ubr5em1Mem mutation (0 available); any Ubr5 mutation (117 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age




Genotype
MGI:6489877
cx10
Allelic
Composition
Htttm5Mem/Htt+
Ubr5em2Mem/Ubr5em2Mem
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation (2 available); any Htt mutation (179 available)
Ubr5em2Mem mutation (0 available); any Ubr5 mutation (117 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age




Genotype
MGI:6489856
cx11
Allelic
Composition
Fan1em1Mem/Fan1em1Mem
Htttm5Mem/Htt+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fan1em1Mem mutation (0 available); any Fan1 mutation (98 available)
Htttm5Mem mutation (2 available); any Htt mutation (179 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age
• in response to mitomycin C in embryonic fibroblasts





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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory