Phenotypes associated with this allele

• Allele Symbol: Atxn1^tm2Hzo
• Allele Name: targeted mutation 2, Huda Y Zoghbi
• Allele ID: MGI:2181805
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atxn1^tm2Hzo/Atxn1^tm2Hzo	129S/SvEv-Atxn1^tm2Hzo	MGI:3850992
hm2	Atxn1^tm2Hzo/Atxn1^tm2Hzo	involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6J	MGI:3850991
cn3	Atxn1^tm2Hzo/Atxn1^tm2Hzo Atxn1l^tm2Hzo/Atxn1l^tm2Hzo Emx1^tm1(cre)Krj/Emx1^+	involves: 129S2/SvPas * 129S7/SvEvBrd	MGI:6275610
cx4	Atxn1^tm2Hzo/Atxn1^tm2Hzo Tg(Pcp2-ATXN1*82Q)5Horr/0	involves: 129S7/SvEvBrd * FVB/N	MGI:3850989

Genotype
MGI:3850992

hm1

• Allelic Composition: Atxn1^tm2Hzo/Atxn1^tm2Hzo
• Genetic Background: 129S/SvEv-Atxn1^tm2Hzo

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

behavior/neurological

decreased exploration in new environment ( J:48508 )

• in an open field and elevated plus maze

abnormal spatial working memory ( J:48508 )

• in a Morris water maze, escape latency is increased compared to in wild-type mice

impaired coordination ( J:48508 )

• at 5 weeks and 6 month

nervous system

decreased paired-pulse facilitation ( J:48508 )

• 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: Atxn1^tm2Hzo/Atxn1^tm2Hzo
• Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6J

behavior/neurological

decreased exploration in new environment ( J:48508 )

• in an open field and elevated plus maze

impaired coordination ( J:48508 )

• at 5 weeks

nervous system

decreased paired-pulse facilitation ( J:48508 )

• 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: Atxn1^tm2Hzo/Atxn1^tm2Hzo; Atxn1l^tm2Hzo/Atxn1l^tm2Hzo; Emx1^tm1(cre)Krj/Emx1⁺
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd

behavior/neurological

impaired contextual conditioning behavior ( J:240674 )

• 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

decreased anxiety-related response ( J:240674 )

• in the elevated plus-maze test, mice spend more time in the open arm and less in the closed arm, indicating reduced anxiety

increased locomotor activity ( J:240674 )

• mice cover a greater distance at a greater speed in the open-field test

nervous system

decreased dentate gyrus size ( J:240674 )

• the hippocampal dentate gyrus shows decreased thickness at 20 weeks of age, however the CA1 and CA3 regions are normal

decreased cerebral cortex cell number ( J:240674 )

• the number of CUX1+ neurons in layers 2-4 is reduced

• however, the corpus callosum appears normal

thin cerebral cortex ( J:240674 )

• 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: Atxn1^tm2Hzo/Atxn1^tm2Hzo; Tg(Pcp2-ATXN1*82Q)5Horr/0
• Genetic Background: involves: 129S7/SvEvBrd * FVB/N

behavior/neurological

ataxia ( J:44095 )

• at 18 weeks

nervous system

neuronal intranuclear inclusions ( J:44095 )