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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Htttm1Hay
targeted mutation 1, Michael Hayden
MGI:2177743
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Htttm1Hay/Htttm1Hay involves: C57BL/6J MGI:3586835
ht2
Htttm1Hay/Htt+ involves: C57BL/6J MGI:3586839
cx3
Htttm1Hay/Htttm1Hay
Tg(HTT*97Q)IXwy/0
Tg(YAC18)18Hay/Tg(YAC18)18Hay
FVB.Cg-Htttm1Hay Tg(HTT*97Q)IXwy Tg(YAC18)18Hay MGI:5617271
cx4
Htttm1Hay/Htttm1Hay
Tg(YAC128)53Hay/0
involves: C57BL/6J * FVB MGI:3711011
cx5
Htttm1Hay/Htttm1Hay
Tg(YAC353G6)W7Hay/0
involves: C57BL/6J * FVB/NJ MGI:3711010
cx6
Htttm1Hay/Htttm1Hay
Tg(YAC72)2511Hay/0
involves: FVB/N MGI:5298845
cx7
Htttm1Hay/Htt+
Tg(YAC72)2511Hay/0
involves: FVB/N MGI:5298846
cx8
Htttm1Hay/Htttm1Hay
Tg(YAC18)18Hay/0
involves: FVB/N MGI:5298848
cx9
Htttm1Hay/Htttm1Hay
Tg(YAC46)668Hay/0
involves: FVB/N MGI:5298849


Genotype
MGI:3586835
hm1
Allelic
Composition
Htttm1Hay/Htttm1Hay
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Hay mutation (0 available); any Htt mutation (179 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most die at around E7.5 and E8.5 and all are dead at E9.5
• most die at around E7.5 and E8.5 and all are dead at E9.5

embryo
• gastrulation is disturbed
• E8.5 embryos fail to neurulate, which leads to disorganization of embryos
• embryos are small and underdeveloped at E7.5
• extraembryonic membranes are fragmented at E7.5 and a connection between the allanotis and the placenta does not form

growth/size/body
• embryos are small and underdeveloped at E7.5

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT Huntington's disease DOID:12858 OMIM:143100
J:25941




Genotype
MGI:3586839
ht2
Allelic
Composition
Htttm1Hay/Htt+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Hay mutation (0 available); any Htt mutation (179 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• significantly slower to find the hidden platform when it was moved to a new location in the reverse trial of the Morris water maze test, indicating cognitive defects associated with acquiring or using new information in the face of exisiting information
• significantly more active throughout both light- and dark-phases when placed in a novel photocell cage than controls
• more reactive to handling than controls

nervous system
• fewer neurons in the globus pallidus, however the caudate/putamen, cerebral cortex, and corpus callosum were normal
• subthalamic nucleus is decreased in size and volume and contains fewer neurons

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Huntington's disease DOID:12858 OMIM:143100
J:25941




Genotype
MGI:5617271
cx3
Allelic
Composition
Htttm1Hay/Htttm1Hay
Tg(HTT*97Q)IXwy/0
Tg(YAC18)18Hay/Tg(YAC18)18Hay
Genetic
Background
FVB.Cg-Htttm1Hay Tg(HTT*97Q)IXwy Tg(YAC18)18Hay
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Hay mutation (0 available); any Htt mutation (179 available)
Tg(HTT*97Q)IXwy mutation (1 available)
Tg(YAC18)18Hay mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 2 month old mice exhibit increased falls and decreased latency to fall during rotarod training, indicating a motor learning deficit
• males show an overall greater impairment on the rotarod than males homozygous for Tg(YAC18)18Hay and Htttm1Hay
• at 9 months of age, mice show deficits in object recognition by preference for an unknown object
• at 6 and 9 months of age, mice show a spatial deficit in spatial learning by preference for a known object in a novel location
• mice spend more time being immobile and less time swimming in the Porsolt forced swim test compared to mice homozygous for Tg(YAC18)18Hay and Htttm1Hay, indicating increased depressive-like behavior
• during open-field exploration, mice enter the center of the field less frequently and spend less total time in the center of the field compared to mice homozygous for Tg(YAC18)18Hay and Htttm1Hay, indicating increased anxiety
• in the elevated plus maze, mice spend less time in the open arms and dip their head off the edges of the open arms less frequently than mice homozygous for Tg(YAC18)18Hay and Htttm1Hay, indicating increased anxiety
• during a spontaneous climbing test, 2 month old mice trend toward an increased latency to begin climbing and decreased number of climbing events and spend significantly less time climbing than mice homozygous for Tg(YAC18)18Hay and Htttm1Hay
• in longitudinal rotarod testing, mice exhibit declining performance with age
• mice show increased stereotypy, or repetitive movement, and decreased jumping compared to mice homozygous for Tg(YAC18)18Hay and Htttm1Hay
• however, no difference in distance traveled or ambulation time is seen during spontaneous activity

growth/size/body
• increase in body weight compared to wild-type controls and a small increase in body weight compared to mice homozygous for Tg(YAC18)18Hay and Htttm1Hay
• body weight gain is greater in females than in males

nervous system
• mice show a trend towards reduced forebrain weight at 12 months of age
• mice show a trend toward reduced corpus callosum volume at 12 months of age
• mice show reductions in both striatal volume and cortical volume at 12 months of age
• at 9 months of age, striatal spiny projection neurons show a significant depolarization of the resting membrane potential and elevated action potential threshold, however excitability of these neurons is similar to controls
• action potential threshold of striatal spiny projection neurons is already increased at 6 months of age
• mice exhibit progressive hippocampal synaptic plasticity deficit
• at 9 months of age, striatal spiny projection neurons exhibit small changes in membrane properties
• at 9 months of age, striatal spiny projection neurons exhibit lower amplitude and frequency of spontaneous excitatory postsynaptic currents (sEPSCs)
• at 9 months of age, striatal spiny projection neurons exhibit lower frequency of spontaneous excitatory postsynaptic currents (sEPSCs)
• however, release probability from presynaptic terminals is unaltered
• mice exhibit a deficiency in long-term potentiation at CA3-to-CA1 synapses at 9 months of age but not at 3 months of age
• paired-pulse facilitation in the hippocampus is reduced at 9 months of age indicating impaired short-term plasticity

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Huntington's disease DOID:12858 OMIM:143100
J:191147 , J:215223




Genotype
MGI:3711011
cx4
Allelic
Composition
Htttm1Hay/Htttm1Hay
Tg(YAC128)53Hay/0
Genetic
Background
involves: C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Hay mutation (0 available); any Htt mutation (179 available)
Tg(YAC128)53Hay mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• expression of the transgene rescues the embryonic lethality observed in Hdh-null animals




Genotype
MGI:3711010
cx5
Allelic
Composition
Htttm1Hay/Htttm1Hay
Tg(YAC353G6)W7Hay/0
Genetic
Background
involves: C57BL/6J * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Hay mutation (0 available); any Htt mutation (179 available)
Tg(YAC353G6)W7Hay mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• expression of the transgene rescues the embryonic lethality observed in Hdh-null animals




Genotype
MGI:5298845
cx6
Allelic
Composition
Htttm1Hay/Htttm1Hay
Tg(YAC72)2511Hay/0
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Hay mutation (0 available); any Htt mutation (179 available)
Tg(YAC72)2511Hay mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• embryonic lethality observed in Htttm1Hay homozygotes is rescued

reproductive system
N
• female mice are fertile
• at 4 months
• testes contain giant multinucleated cells and protein aggregates

cellular
• at 4 months
• testes contain giant multinucleated cells and protein aggregates

endocrine/exocrine glands




Genotype
MGI:5298846
cx7
Allelic
Composition
Htttm1Hay/Htt+
Tg(YAC72)2511Hay/0
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Hay mutation (0 available); any Htt mutation (179 available)
Tg(YAC72)2511Hay mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• in some mice

endocrine/exocrine glands
• in some mice




Genotype
MGI:5298848
cx8
Allelic
Composition
Htttm1Hay/Htttm1Hay
Tg(YAC18)18Hay/0
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Hay mutation (0 available); any Htt mutation (179 available)
Tg(YAC18)18Hay mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• embryonic lethality observed in Htttm1Hay homozygotes is rescued

reproductive system
N
• mice exhibit normal testes and are fertile




Genotype
MGI:5298849
cx9
Allelic
Composition
Htttm1Hay/Htttm1Hay
Tg(YAC46)668Hay/0
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Hay mutation (0 available); any Htt mutation (179 available)
Tg(YAC46)668Hay mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• embryonic lethality observed in Htttm1Hay homozygotes is rescued

reproductive system
N
• female mice are fertile





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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory