All Phenotypes Atxn7<tm1Hzo> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atxn7^tm1Hzo/Atxn7^tm1Hzo	involves: 129S7/SvEvBrd	MGI:5315442
hm2	Atxn7^tm1Hzo/Atxn7^tm1Hzo	involves: 129S7/SvEvBrd * C57BL/6	MGI:2651695
ht3	Atxn7^tm1Hzo/Atxn7⁺	involves: 129S7/SvEvBrd	MGI:5315439
ht4	Atxn7^tm1Hzo/Atxn7⁺	involves: 129S7/SvEvBrd * C57BL/6	MGI:2651696
ht5	Atxn7^tm1Hzo/Atxn7⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3774850
cx6	Atxn7^tm1Hzo/Atxn7⁺ Kat2a^tm3Roth/Kat2a^tm3Roth	involves: 129 * 129S7/SvEvBrd	MGI:5315447
cx7	Atxn7^tm1Hzo/Atxn7⁺ Kat2a^tm3.1Roth/Kat2a⁺	involves: 129 * 129S7/SvEvBrd	MGI:5315460
cx8	Atxn7^tm1Hzo/Atxn7^tm1Hzo Kat2a^tm3.1Roth/Kat2a⁺	involves: 129 * 129S7/SvEvBrd	MGI:5315461
cx9	Atxn7^tm1Hzo/Atxn7⁺ Kat2a^tm3Roth/Kat2a⁺	involves: 129 * 129S7/SvEvBrd	MGI:5315467

Allelic Composition	Atxn7^tm1Hzo/Atxn7^tm1Hzo
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn7^tm1Hzo mutation (1 available); any Atxn7 mutation (38 available)

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

mortality/aging

premature death ( J:179021 )

• mutants with 100 CAG repeats die earlier than heterozygotes, with a lifespan averaging 12.1 months

behavior/neurological

behavior/neurological phenotype ( J:179021 )

N	• mutants with 100 CAG repeats at 7-8 months of age are able to stretch their hindlimbs normally upon tail suspension as in wild-type mice

ataxia ( J:179021 )

• mutants with 100 CAG repeats progressively develop mild ataxia

abnormal gait ( J:179021 )

• at 8-9 months of age, but not 4 months of age, mutants with 100 CAG repeats walk with a significantly wider hind stance and dispersed fore- and hind-steps relative to wild-type mice

nervous system

decreased Purkinje cell size ( J:179021 )

• Purkinje cells of mutants with 100 CAG repeats have smaller soma size, however numbers of Purkinje cells are normal

abnormal cerebellum vermis morphology ( J:179021 )

• the cerebellar vermis of mutants with 100 CAG repeats shows mild cortical atrophy in the molecular layer of lobules VI, VII, and X at 8-9 months of age

retina photoreceptor degeneration ( J:179021 )

• mutants with 100 CAG repeats develop retinal atrophy, first observed at 4 months of age

vision/eye

retina photoreceptor degeneration ( J:179021 )

• mutants with 100 CAG repeats develop retinal atrophy, first observed at 4 months of age

retina outer nuclear layer degeneration ( J:179021 )

• mutants with 100 CAG repeats exhibit normal retinal development, however mild thinning of the retina outer nuclear layer is seen at 4 months of age, and by 8 months of age, the outer nuclear layer is drastically thinner

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 7		DOID:0050958	OMIM:164500	J:179021

Allelic Composition	Atxn7^tm1Hzo/Atxn7^tm1Hzo
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn7^tm1Hzo mutation (1 available); any Atxn7 mutation (38 available)

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

mortality/aging

premature death ( J:82072 )

• death at 7 to 8 weeks of age

Allelic Composition	Atxn7^tm1Hzo/Atxn7⁺
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn7^tm1Hzo mutation (1 available); any Atxn7 mutation (38 available)

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

mortality/aging

premature death ( J:179021 )

• mutants with 100 CAG repeats exhibit a shorter lifespan than wild-type mice, with an average of 18.7 months

• mutants with 230 CAG repeats have an average lifespan of only 3.5 months

growth/size/body

weight loss ( J:179021 )

• in mutants with 100 and 230 CAG repeats

behavior/neurological

tremors ( J:179021 )

• in mutants with 100 and 230 CAG repeats

abnormal motor coordination/balance ( J:179021 )

• gradual loss of mobility in mutants with 100 and 230 CAG repeats

ataxia ( J:179021 )

• mutants with 100 and 230 CAG repeats progressively develop mild ataxia

nervous system

abnormal Bergmann glial cell morphology ( J:113150 )

• mice exhibit swollen and disoriented Bergmann glia radial processes

skeleton

kyphosis ( J:179021 )

• in mutants with 100 and 230 CAG repeats

vision/eye

blepharoptosis ( J:179021 )

• in mutants with 100 and 230 CAG repeats

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 7		DOID:0050958	OMIM:164500	J:113150 , J:179021

Allelic Composition	Atxn7^tm1Hzo/Atxn7⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn7^tm1Hzo mutation (1 available); any Atxn7 mutation (38 available)

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

mortality/aging

premature death ( J:82072 )

• death at 14 to 19 weeks of age

• mice exhibit normal growth until 5 weeks of age, with little to no weight gain thereafter; mice did not eat or drink during terminal stages prior to death

behavior/neurological

ataxia ( J:82072 )

• gait ataxia displayed by 8 to 9 weeks of age

impaired coordination ( J:82072 )

• impaired motor coordination in rotarod test

decreased locomotor activity ( J:82072 )

• exhibited at terminal stage prior to death

myoclonus ( J:82072 )

• some mice developed myoclonic seizures around 12 weeks of age

muscle

myoclonus ( J:82072 )

• some mice developed myoclonic seizures around 12 weeks of age

reproductive system

female infertility ( J:82072 )

• females were infertile at 8 weeks of age

male infertility ( J:82072 )

• males showed reduced fertility at 16 weeks of age

skeleton

kyphosis ( J:82072 )

vision/eye

decreased retina photoreceptor cell number ( J:82072 )

• loss of ~20% of photoreceptors from outer nuclear layer at 15 weeks of age; retinal dysfunction occurring prior to the loss of photorecptors, cone dysfunction occuring prior to rod dysfunction; accumulation of Sca7 protein, forming microaggregates by 8 weeks of age

short photoreceptor outer segment ( J:82072 )

• shortening of outer segments

blepharoptosis ( J:82072 )

• eyes receded and ptosis developed as mice aged

thin retina inner plexiform layer ( J:82072 )

• thinning of inner plexiform layer

nervous system

myoclonus ( J:82072 )

• some mice developed myoclonic seizures around 12 weeks of age

decreased brain size ( J:82072 )

abnormal cerebellum morphology ( J:82072 )

• progressive accumulation of Sca7 protein, first evident at 5 weeks of age

decreased Purkinje cell size ( J:82072 )

• cell bodies were observed to be smaller than those of wild-type at 16 wks of age; normal numbers of Purkinje cells and their dendritic arbors are present at 16 wks of age

decreased retina photoreceptor cell number ( J:82072 )

short photoreceptor outer segment ( J:82072 )

• shortening of outer segments

decreased post-tetanic potentiation ( J:82072 )

• impaired posttetanic potentiation (PTP)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 7		DOID:0050958	OMIM:164500	J:82072

Allelic Composition	Atxn7^tm1Hzo/Atxn7⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn7^tm1Hzo mutation (1 available); any Atxn7 mutation (38 available)

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

Altered rod photoreceptor nuclear architecture in Tg(RHO-SCA7)R7EJman/0 and Atxn7^tm1Hzo/Atxn7⁺ mice, but not in Tg(RHO-SCA7)R7NJman/0 mice

mortality/aging

premature death ( J:107098 )

vision/eye

abnormal retina rod cell morphology ( J:107098 )

• rod photoreceptors exhibit chromatin decondensation; rod nuclei contain more euchromatin and show a reduced and disorganized heterochromatin territory

nervous system

abnormal retina rod cell morphology ( J:107098 )

• rod photoreceptors exhibit chromatin decondensation; rod nuclei contain more euchromatin and show a reduced and disorganized heterochromatin territory

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 7		DOID:0050958	OMIM:164500	J:107098

Allelic Composition	Atxn7^tm1Hzo/Atxn7⁺ Kat2a^tm3Roth/Kat2a^tm3Roth
Genetic Background	involves: 129 * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn7^tm1Hzo mutation (1 available); any Atxn7 mutation (38 available)
Kat2a^tm3Roth mutation (0 available); any Kat2a mutation (40 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:179021 )

• double mutants with 100 CAG repeats in Atxn7 die at P1

Allelic Composition	Atxn7^tm1Hzo/Atxn7⁺ Kat2a^tm3.1Roth/Kat2a⁺
Genetic Background	involves: 129 * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn7^tm1Hzo mutation (1 available); any Atxn7 mutation (38 available)
Kat2a^tm3.1Roth mutation (1 available); any Kat2a mutation (40 available)

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

mortality/aging

premature death ( J:179021 )

• double mutants with 100 CAG repeats in Atxn7 do not survive longer than 20 months of age

behavior/neurological

abnormal gait ( J:179021 )

• at 8-9 months of age, but not 4 months of age, double mutants with 100 CAG repeats in Atxn7 walk with a significantly wider hind stance and dispersed fore- and hind-steps relative to wild-type mice, indicating an uncoordinated walking gait

• this uncoordinated walking gait is worse in these double mutants than in single homozygous or heterozygous Atxn7 mice with 100 CAG repeats

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

mortality/aging

premature death ( J:179021 )

• average life span of double mutants with 100 CAG repeats in Atxn7 is 10.7 +/- 7.5 months, and none of the mutants survive more than 1 year

behavior/neurological

limb grasping ( J:179021 )

• 66.6% of double mutants with 100 CAG repeats in Atxn7 are unable to stretch out their hindlimbs upon tail suspension and exhibit limb grasping at 6-8 months of age

ataxia ( J:179021 )

• double mutants with 100 CAG repeats in Atxn7 exhibit ataxic gait

abnormal gait ( J:179021 )

• this uncoordinated walking gait is worse in these double mutants with 100 CAG repeats than in single homozygous or heterozygous Atxn7 mice with 100 CAG repeats

• gait of double mutants with 100 CAG repeats deteriorates over time into a severe stagger

nervous system

Purkinje cell degeneration ( J:179021 )

• double mutants with 100 CAG repeats in Atxn7 have fewer Purkinje cells at 9 months of age, but not at 5 months of age, indicating a loss of these cells

• Purkinje cell loss is significantly worse in lobule X of double mutants with 100 CAG repeats in Atxn7 than in other regions

decreased Purkinje cell number ( J:179021 )

• double mutants with 100 CAG repeats in Atxn7 have fewer Purkinje cells at 9 months of age, but not at 5 months of age, indicating a loss of these cells

decreased Purkinje cell size ( J:179021 )

• Purkinje cells of double mutants with 100 CAG repeats in Atxn7 have smaller soma size

abnormal cerebellum vermis morphology ( J:179021 )

• the cerebellar vermis of double mutants with 100 CAG repeats in Atxn7 shows cortical atrophy in the molecular layer of lobules VI, VII, and X at 8-9 months of age; atrophy is more severe in the double mutants than in single Atxn7^tm1Hzo homozygotes with 100 CAG repeats

photoreceptor inner segment degeneration ( J:179021 )

• by 2 months of age, double mutants with 100 CAG repeats in Atxn7 exhibit thinner inner segment layers of the retina, indicating photoreceptor degeneration

photoreceptor outer segment degeneration ( J:179021 )

• by 2 months of age, double mutants with 100 CAG repeats in Atxn7 exhibit thinner outer segment layers of the retina, which is completely gone by 8 months of age, indicating photoreceptor degeneration

retina photoreceptor degeneration ( J:179021 )

• double mutants with 100 CAG repeats in Atxn7 develop retinal atrophy, first observed at 1.5-2 months of age, indicating accelerated retinal degeneration compared to single Atxn7 homozygous mice with 100 CAG repeats

vision/eye

photoreceptor inner segment degeneration ( J:179021 )

• by 2 months of age, double mutants with 100 CAG repeats in Atxn7 exhibit thinner inner segment layers of the retina, indicating photoreceptor degeneration

photoreceptor outer segment degeneration ( J:179021 )

retina photoreceptor degeneration ( J:179021 )

thin retina inner nuclear layer ( J:179021 )

• in double mutants with 100 CAG repeats in Atxn7

thin retina outer nuclear layer ( J:179021 )

• in double mutants with 100 CAG repeats in Atxn7

retina outer nuclear layer degeneration ( J:179021 )

• double mutants with 100 CAG repeats in Atxn7 show progressive thinning of the outer nuclear layer and inner nuclear layer at 4 months of age that is drastic my 8 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 7		DOID:0050958	OMIM:164500	J:179021

Allelic Composition	Atxn7^tm1Hzo/Atxn7⁺ Kat2a^tm3Roth/Kat2a⁺
Genetic Background	involves: 129 * 129S7/SvEvBrd

Find Mice

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

mortality/aging

premature death ( J:179021 )

• double mutants with 100 CAG repeats in Atxn7 do not survive past 25 months of age

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