All Phenotypes Atxn1<tm1Hzo> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Atxn1^tm1Hzo
targeted mutation 1, Huda Y Zoghbi
MGI:2429435

Summary

8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Atxn1^tm1Hzo/Atxn1⁺	B6.129S7-Atxn1^tm1Hzo	MGI:4819768
ht2	Atxn1^tm1Hzo/Atxn1⁺	involves: 129S7/SvEvBrd * C57BL/6	MGI:3774931
cx3	Atxn1^tm1Hzo/Atxn1⁺ Cic^Gt(XE565)Byg/Cic⁺	B6.129-Cic^Gt(XE565)Byg Atxn1^tm1Hzo	MGI:5297806
cx4	Atxn1^tm1Hzo/Atxn1⁺ Nlk^{Gt(RRJ297)Byg}/Nlk⁺	B6.129-Nlk^{Gt(RRJ297)Byg} Atxn1^tm1Hzo	MGI:5521733
cx5	Atxn1^tm1Hzo/Atxn1⁺ Atxn1l^tm2.1Hzo/Atxn1l^tm2.1Hzo	involves: 129S7/SvEvBrd * C57BL/6J	MGI:5301618
cx6	Atxn1^tm1Hzo/Atxn1^tm1Hzo Atxn1l^tm2.1Hzo/Atxn1l⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:5301619
cx7	Atxn1^tm1Hzo/Atxn1^tm1Hzo Atxn1l^tm2.1Hzo/Atxn1l^tm2.1Hzo	involves: 129S7/SvEvBrd * C57BL/6J	MGI:5301617
cx8	Atxn1^tm1Hzo/Atxn1⁺ Atxn1l^tm1.1Hzo/Atxn1l⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:4819767

Allelic Composition	Atxn1^tm1Hzo/Atxn1⁺
Genetic Background	B6.129S7-Atxn1^tm1Hzo

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1^tm1Hzo mutation (1 available); any Atxn1 mutation (53 available)

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

mortality/aging

premature death ( J:119643 , J:177841 , J:387937 )

• mice die before 60 weeks of age (J:119643)

• mice exhibit premature lethality (J:177841)

• however, exercise improves survival (J:177841)

• median survival of approximately 41 weeks of age (J:387937)

nervous system

decreased Purkinje cell number ( J:119643 , J:177841 )

neuronal intranuclear inclusions ( J:177841 )

behavior/neurological

abnormal associative learning ( J:177841 )

• impaired fear conditioning

ataxia ( J:119643 )

impaired coordination ( J:119643 , J:177841 , J:198661 , J:387937 )

• on a rotarod and dowel test (J:177841)

• mice exhibit increased latency to cross a dowel rod and walk off the rod fewer times than wild-type mice (J:198661)

• mice show impaired performance on the rotarod (J:387937)

decreased locomotor activity ( J:177841 , J:387937 )

• in an open field test (J:177841)

• mice show a reduction in the overall distance traveled in the open field (J:387937)

growth/size/body

decreased body weight ( J:177841 )

weight loss ( J:387937 )

• mice exhibit reduced weight at 32 weeks of age

Allelic Composition	Atxn1^tm1Hzo/Atxn1⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1^tm1Hzo mutation (1 available); any Atxn1 mutation (53 available)

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

mortality/aging

premature death ( J:77225 )

• premature death first occurs between 35 to 45 weeks of age

• none of the mice survive past 50 weeks of age

growth/size/body

slow postnatal weight gain ( J:77225 )

• growth retardation starts at 8 weeks of age

• mice weigh 20% less than wild-type littermates by 11 weeks of age

cachexia ( J:77225 )

• mice start losing weight after 20 weeks of age

behavior/neurological

abnormal cued conditioning behavior ( J:77225 )

• in a context fear test, mice display significantly less freezing to the conditioned stimulus 24 hours after the training period but not 1 hour after

abnormal spatial learning ( J:77225 )

• 7-8 week old mice take more time and swim further to locate a submerged but visible platform in a morris water test during the first 6 trials

• mice perform as wells as wild-type controls in later trials

• 7-8 week old mice take more time and swim further to locate a hidden platform in a morris water test regardless of trial number

limb grasping ( J:77225 )

• mice have a clasping phenotype when lifted by the tail starting at 9 weeks of age

ataxia ( J:77225 )

• evident by 20 weeks of age

impaired coordination ( J:77225 )

• retention time in a rotarod test is impaired by about half for both 5 and 7 week old mice

abnormal gait ( J:77225 )

• evident by 20 weeks of age

nervous system

decreased brain weight ( J:77225 )

• brain weight is significantly reduced by 16 weeks of age

dilated brain ventricle ( J:77225 )

• all ventricles are dilated by 40 weeks of age

abnormal Purkinje cell dendrite morphology ( J:77225 )

• there is a reduction in dendritic arbor of cerebellar Purkinje neurons from mice 6 to 11 weeks of age

• this reduction in dendritic arbor leads to a reduction in membrane capacitance

decreased Purkinje cell number ( J:77225 )

• significantly fewer Purkinje cells are present in 40-week old mice compared to wild-type littermates

neuronal intranuclear inclusions ( J:77225 )

• ubiquitinated neuronal intranuclear inclusions (NI) are present in CA1 hippocampal neurons by 7 weeks of age

• NI are also present in cortical neurons and thalamic nuclei by 7 weeks of age

• NI are present in numerous parts of the brain during the endstage of disease

abnormal excitatory postsynaptic potential ( J:77225 )

• EPSP magnitude is significantly decreased in the hippocampus 90 minutes after high-frequency stimulation

reduced long-term potentiation ( J:77225 )

• hippocampus LTP is significantly reduced in 24 week old mice

muscle

muscle degeneration ( J:77225 )

• muscle wasting is evident by 20 weeks of age

• atrophy of lower limb muscles occurs by 30 weeks of age

skeleton

kyphosis ( J:77225 )

• is observed by 30 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia 1		DOID:0050954	OMIM:164400	J:77225

Allelic Composition	Atxn1^tm1Hzo/Atxn1⁺ Cic^Gt(XE565)Byg/Cic⁺
Genetic Background	B6.129-Cic^Gt(XE565)Byg Atxn1^tm1Hzo

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1^tm1Hzo mutation (1 available); any Atxn1 mutation (53 available)
Cic^Gt(XE565)Byg mutation (1 available); any Cic mutation (99 available)

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

mortality/aging

premature death ( J:177841 )

• not as severe as in Atxn1^tm1Hzo homozygotes

nervous system

nervous system phenotype ( J:177841 )

N	• mice exhibit improved Purkinje cell count compared with Atxn1^tm1Hzo homozygotes

neuronal intranuclear inclusions ( J:177841 )

• as in Atxn1^tm1Hzo homozygotes

behavior/neurological

behavior/neurological phenotype ( J:177841 )

N	• mice exhibit improved activity, coordination, and fear conditioning compared with Atxn1^tm1Hzo homozygotes

growth/size/body

growth/size/body region phenotype ( J:177841 )

N	• weight loss observed in Atxn1^tm1Hzo homozygotes is rescued

Allelic Composition	Atxn1^tm1Hzo/Atxn1⁺ Nlk^{Gt(RRJ297)Byg}/Nlk⁺
Genetic Background	B6.129-Nlk^{Gt(RRJ297)Byg} Atxn1^tm1Hzo

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1^tm1Hzo mutation (1 available); any Atxn1 mutation (53 available)
Nlk^{Gt(RRJ297)Byg} mutation (0 available); any Nlk mutation (46 available)

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

behavior/neurological

behavior/neurological phenotype ( J:198661 )

N	• unlike Atxn1^tm1Hzo heterozygotes, mice exhibit normal performance on a dowel rod walking test

nervous system

nervous system phenotype ( J:198661 )

N	• mice exhibit improved complexity of fine dendritic arbors and Purkinje cell soma at 38 to 39 weeks of age and molecular layer thickness compared with Atxn1^tm1Hzo heterozygotes

Allelic Composition	Atxn1^tm1Hzo/Atxn1⁺ Atxn1l^tm2.1Hzo/Atxn1l^tm2.1Hzo
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1l^tm2.1Hzo mutation (1 available); any Atxn1l mutation (27 available)
Atxn1^tm1Hzo mutation (1 available); any Atxn1 mutation (53 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:178303 )

• less than 20% of pups die within 3 h of birth

homeostasis/metabolism

cyanosis ( J:178303 )

• less than 20% of pups of cyanotic and die within 3 h of birth

respiratory system

abnormal pulmonary alveolar sac morphology ( J:178303 )

• air space enlargement is more severe than in mice homozygous for the Atxn1l mutation alone

growth/size/body

omphalocele ( J:178303 )

• in some embryos

nervous system

enlarged lateral ventricles ( J:178303 )

• at birth in 3 of 10 pups

enlarged third ventricle ( J:178303 )

• at birth in 3 of 10 pups

Allelic Composition	Atxn1^tm1Hzo/Atxn1^tm1Hzo Atxn1l^tm2.1Hzo/Atxn1l⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:178303 )

• less than 20% of pups die within 3 h of birth

homeostasis/metabolism

cyanosis ( J:178303 )

• less than 20% of pups of cyanotic and die within 3 h of birth

growth/size/body

omphalocele ( J:178303 )

• in a few embryos

Allelic Composition	Atxn1^tm1Hzo/Atxn1^tm1Hzo Atxn1l^tm2.1Hzo/Atxn1l^tm2.1Hzo
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

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

mortality/aging

postnatal lethality, complete penetrance ( J:178303 )

• all die before weaning

neonatal lethality, incomplete penetrance ( J:178303 )

• about 73% of pups die within 3 h of birth

homeostasis/metabolism

cyanosis ( J:178303 )

• about 73% of pups of cyanotic and die within 3 h of birth

growth/size/body

omphalocele ( J:178303 )

• in about 45% of embryos

nervous system

enlarged lateral ventricles ( J:178303 )

• at birth in most pups

enlarged third ventricle ( J:178303 )

• at birth in most pups

Allelic Composition	Atxn1^tm1Hzo/Atxn1⁺ Atxn1l^tm1.1Hzo/Atxn1l⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1l^tm1.1Hzo mutation (0 available); any Atxn1l mutation (27 available)
Atxn1^tm1Hzo mutation (1 available); any Atxn1 mutation (53 available)

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

mortality/aging

premature death ( J:119643 )

• mice die before 70 weeks of age compared to 60 weeks for Atxn1^tm1Hzo heterozygotes

nervous system

nervous system phenotype ( J:119643 )

N	• Purkinje cell loss observed in Atxn1^tm1Hzo heterozygotes is rescued

abnormal Purkinje cell dendrite morphology ( J:119643 )

• Purkinje cell dendrites are more complex than in Atxn1^tm1Hzo heterozygotes

• atrophy of the Purkinje cell soma is improved compared to in Atxn1^tm1Hzo heterozygotes

• Purkinje cells exhibit an increase in inclusions compared to in Atxn1^tm1Hzo heterozygotes

neuron degeneration ( J:119643 )

• mice exhibit partial rescue of neuron loss observed in Atxn1^tm1Hzo heterozygotes

behavior/neurological

behavior/neurological phenotype ( J:119643 )

N	• mice exhibit suppression of the ataxia observed in Atxn1^tm1Hzo heterozygotes

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