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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Atxn1tm2Hzo
targeted mutation 2, Huda Y Zoghbi
MGI:2181805
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Atxn1tm2Hzo/Atxn1tm2Hzo 129S/SvEv-Atxn1tm2Hzo MGI:3850992
hm2
Atxn1tm2Hzo/Atxn1tm2Hzo involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6J MGI:3850991
cn3
Atxn1tm2Hzo/Atxn1tm2Hzo
Atxn1ltm2Hzo/Atxn1ltm2Hzo
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * 129S7/SvEvBrd MGI:6275610
cx4
Atxn1tm2Hzo/Atxn1tm2Hzo
Tg(Pcp2-ATXN1*82Q)5Horr/0
involves: 129S7/SvEvBrd * FVB/N MGI:3850989


Genotype
MGI:3850992
hm1
Allelic
Composition
Atxn1tm2Hzo/Atxn1tm2Hzo
Genetic
Background
129S/SvEv-Atxn1tm2Hzo
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1tm2Hzo mutation (1 available); any Atxn1 mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in an open field and elevated plus maze
• in a Morris water maze, escape latency is increased compared to in wild-type mice
• at 5 weeks and 6 month

nervous system
• mice exhibit decreased paired-pulse facilitation compared with wild-type mice
• however, long-term and post-tetanic potentiations are normal




Genotype
MGI:3850991
hm2
Allelic
Composition
Atxn1tm2Hzo/Atxn1tm2Hzo
Genetic
Background
involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1tm2Hzo mutation (1 available); any Atxn1 mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in an open field and elevated plus maze
• at 5 weeks

nervous system
• mice exhibit decreased paired-pulse facilitation compared with wild-type mice
• however, long-term and post-tetanic potentiations are normal




Genotype
MGI:6275610
cn3
Allelic
Composition
Atxn1tm2Hzo/Atxn1tm2Hzo
Atxn1ltm2Hzo/Atxn1ltm2Hzo
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1ltm2Hzo mutation (1 available); any Atxn1l mutation (24 available)
Atxn1tm2Hzo mutation (1 available); any Atxn1 mutation (50 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in a fear conditioning assay, mice exhibit reduced freezing, especially in the test of spatial context, indicating impaired learning and memory
• however, mice show normal social behavior in the three-chamber test
• in the elevated plus-maze test, mice spend more time in the open arm and less in the closed arm, indicating reduced anxiety
• mice cover a greater distance at a greater speed in the open-field test

nervous system
• the hippocampal dentate gyrus shows decreased thickness at 20 weeks of age, however the CA1 and CA3 regions are normal
• the number of CUX1+ neurons in layers 2-4 is reduced
• however, the corpus callosum appears normal
• mice show reduced thickness of cortical layers 2-4 at 5 and 20 weeks of age, whereas thickness of layers 5 and 6 remains normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
disease of mental health DOID:150 J:240674




Genotype
MGI:3850989
cx4
Allelic
Composition
Atxn1tm2Hzo/Atxn1tm2Hzo
Tg(Pcp2-ATXN1*82Q)5Horr/0
Genetic
Background
involves: 129S7/SvEvBrd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1tm2Hzo mutation (1 available); any Atxn1 mutation (50 available)
Tg(Pcp2-ATXN1*82Q)5Horr mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• at 18 weeks

nervous system





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory