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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Htttm1Szi
targeted mutation 1, Scott Zeitlin
MGI:1857722
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Htttm1Szi/Htttm1Szi either: (involves: 129/Sv * C57BL/6J) or (involves: 129/Sv * MF1) MGI:2176436
cn2
Htttm1Szi/Htttm2Szi
Tg(Camk2a-cre)1Szi/0
involves: 129S/SvEv * 129S1/Sv * C57BL/6 * CBA MGI:3605769
cn3
Htttm1Szi/Htttm2Szi
Tg(Camk2a-cre)2Szi/0
involves: 129S/SvEv * 129S1/Sv * C57BL/6 * CBA MGI:3605770
cx4
Hap1tm1Id/Hap1tm1Id
Htttm1Szi/Htttm1Szi
involves: 129S/SvEv * 129S1/Sv * C57BL/6 MGI:3521639
cx5
Hap1tm1Id/Hap1+
Htttm1Szi/Htttm1Szi
involves: 129S/SvEv * 129S1/Sv * C57BL/6 MGI:3521640
cx6
Htttm1Szi/Htttm1Szi
Tg(HTT*)BXwy/0
involves: 129S/SvEv * FVB MGI:4438240
cx7
Htttm1Szi/Htttm1Szi
Tg(HTT*)1Xwy/0
involves: 129S/SvEv * FVB MGI:4438242


Genotype
MGI:2176436
hm1
Allelic
Composition
Htttm1Szi/Htttm1Szi
Genetic
Background
either: (involves: 129/Sv * C57BL/6J) or (involves: 129/Sv * MF1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Szi mutation (0 available); any Htt mutation (178 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die between E8.5 and E10.5

embryo
• E7.5 embryos exhibit an increase in apoptotic cells
• epiblast contains numerous pyknotic nuclei
• at E8.5, embryos appear underdeveloped and have not progressed beyond the E7.5 egg cylinder stage, however E6.5 embryos are indistinguishable from wild-type
• egg cylinders are smaller and stubby at E7.5
• despite the formation of the three germ layers, embryos do not expand normally, are disorganized, and exhibit dense, amorphous masses of cells in some areas
• at E8.5, the amniotic cavity often contains dead cells with pyknotic nuclei
• at E8.5, the amniotic cavity is small
• thicker Reichert's membrane that exhibits many interspersed nodules covered with clusters of parietal cells
• extraembryonic portion of the E7.5 embryo appears folded and disorganized
• the surface of the visceral endoderm consists of semi-spherical blebs due to numerous invaginations

cellular
• E7.5 embryos exhibit an increase in apoptotic cells
• epiblast contains numerous pyknotic nuclei

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT Huntington's disease DOID:12858 OMIM:143100
J:29267




Genotype
MGI:3605769
cn2
Allelic
Composition
Htttm1Szi/Htttm2Szi
Tg(Camk2a-cre)1Szi/0
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Szi mutation (0 available); any Htt mutation (178 available)
Htttm2Szi mutation (0 available); any Htt mutation (178 available)
Tg(Camk2a-cre)1Szi mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die between 11 and 13 months of age

growth/size/body
• smaller than controls at weaning and at P60

behavior/neurological
• abnormal limb clasping at P60 that becomes progressively more severe such that mice curl their body upon clasping and maintain the posture for several seconds following return to cage
• exhibit a slight tremor at 10-12 months of age
• exhibit motor defects in mutants subjected to cage-top rotation test and elevated wire rod hanging test
• noticeably hypoactive at 10-12 months of age

nervous system
• gliosis is seen throughout the forebrain in older mutants
• reactive astocytosis in the entorhinal cortex, striatum, and frontal cortex at 4 and 10 months of age
• 4 and 8 month old mutants exhibit neurodegeneration in the external capsule fibre tracts and in fibre bundles of the internal capsule within the striatum, in the amygdala and in both the frontal and dorsal cortex

reproductive system
• exhibit a reduction in the number of spermatocytes and round spermatids in the seminiferous tubules and in mature motile sperm in the lumen of the epididymis
• disorganized and contain fewer spermatocytes and round spermatids compared to controls
• testis is about 50% the weight of controls

endocrine/exocrine glands
• disorganized and contain fewer spermatocytes and round spermatids compared to controls
• testis is about 50% the weight of controls

cellular
• exhibit a reduction in the number of spermatocytes and round spermatids in the seminiferous tubules and in mature motile sperm in the lumen of the epididymis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Huntington's disease DOID:12858 OMIM:143100
J:65520




Genotype
MGI:3605770
cn3
Allelic
Composition
Htttm1Szi/Htttm2Szi
Tg(Camk2a-cre)2Szi/0
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Szi mutation (0 available); any Htt mutation (178 available)
Htttm2Szi mutation (0 available); any Htt mutation (178 available)
Tg(Camk2a-cre)2Szi mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants that are hydrocephalic die by P35
• none survive longer than 13 months

growth/size/body
• smaller than controls at weaning and at P60

behavior/neurological
• abnormal limb clasping at P21 that becomes progressively more severe such that mice curl their body upon clasping and maintain the posture for several seconds following return to cage
• exhibit a slight tremor at 10-12 months of age
• exhibit motor defects in mutants subjected to cage-top rotation test and elevated wire rod hanging test
• noticeably hypoactive at 10-12 months of age

nervous system
• about 8% are hydrocephalic by P10
• striatum is disorganized at 8-months of age
• cortex is disorganized at 8-months of age
• gliosis is seen throughout the forebrain in young mutants
• reactive astocytosis in the entorhinal cortex, striatum, and frontal cortex at 4 and 8 months of age
• neurodegeneration in the caudal/lateral region of the cortex at 4-6 months of age and in the rostral and caudal portions of the brain adjacent to the external capsule and in the entorhinal cortex at 8 months of age
• exhibit shrunken eosinophilic neurons, indicative of neuronal damage, in the hippocampus at 8-months of age
• 8 month old mutants exhibit neurodegeneration in the external capsule fibre tracts and in fibre bundles of the internal capsule within the striatum, in the amygdala and in both the frontal and dorsal cortex
• degeneration is essentially complete by 10 months

reproductive system
• exhibit a reduction in the number of spermatocytes and round spermatids in the seminiferous tubules and in mature motile sperm in the lumen of the epididymis
• disorganized and contain fewer spermatocytes and round spermatids compared to controls
• testis is about 50% the weight of controls

endocrine/exocrine glands
• disorganized and contain fewer spermatocytes and round spermatids compared to controls
• testis is about 50% the weight of controls

cellular
• exhibit a reduction in the number of spermatocytes and round spermatids in the seminiferous tubules and in mature motile sperm in the lumen of the epididymis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Huntington's disease DOID:12858 OMIM:143100
J:65520




Genotype
MGI:3521639
cx4
Allelic
Composition
Hap1tm1Id/Hap1tm1Id
Htttm1Szi/Htttm1Szi
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hap1tm1Id mutation (0 available); any Hap1 mutation (38 available)
Htttm1Szi mutation (0 available); any Htt mutation (178 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• at E8.5 the embryonic portion of the conceptus is smaller than normal similar to Hdhtm1Szi single homozygotes
• at E8.5 neural folds are absent similar to Hdhtm1Szi single homozygotes
• at E8.5 somites are absent similar to Hdhtm1Szi single homozygotes

growth/size/body
• at E8.5 the embryonic portion of the conceptus is smaller than normal similar to Hdhtm1Szi single homozygotes




Genotype
MGI:3521640
cx5
Allelic
Composition
Hap1tm1Id/Hap1+
Htttm1Szi/Htttm1Szi
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hap1tm1Id mutation (0 available); any Hap1 mutation (38 available)
Htttm1Szi mutation (0 available); any Htt mutation (178 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• at E8.5 the embryonic portion of the conceptus is smaller than normal similar to Hdhtm1Szi single homozygotes
• at E8.5 neural folds are absent similar to Hdhtm1Szi single homozygotes
• at E8.5 somites are absent similar to Hdhtm1Szi single homozygotes

growth/size/body
• at E8.5 the embryonic portion of the conceptus is smaller than normal similar to Hdhtm1Szi single homozygotes




Genotype
MGI:4438240
cx6
Allelic
Composition
Htttm1Szi/Htttm1Szi
Tg(HTT*)BXwy/0
Genetic
Background
involves: 129S/SvEv * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Szi mutation (0 available); any Htt mutation (178 available)
Tg(HTT*)BXwy mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice are born at Mendelian ratios

nervous system
N
• unlike Htttm1Szi homozygotes, mice do not exhibit neurodegeneration or increased anxiety-related response




Genotype
MGI:4438242
cx7
Allelic
Composition
Htttm1Szi/Htttm1Szi
Tg(HTT*)1Xwy/0
Genetic
Background
involves: 129S/SvEv * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm1Szi mutation (0 available); any Htt mutation (178 available)
Tg(HTT*)1Xwy mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice are born at Mendelian ratios





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last database update
10/22/2024
MGI 6.24
The Jackson Laboratory