Phenotypes associated with this allele

• Allele Symbol: Atxn7⁺
• Allele Name: wild type
• Allele ID: MGI:2435414
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Atxn7^tm1Hzo/Atxn7^+	involves: 129S7/SvEvBrd	MGI:5315439
ht2	Atxn7^tm1Hzo/Atxn7^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:2651696
ht3	Atxn7^tm1Hzo/Atxn7^+	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3774850
cx4	Atxn7^tm1Hzo/Atxn7^+ Kat2a^tm3Roth/Kat2a^tm3Roth	involves: 129 * 129S7/SvEvBrd	MGI:5315447
cx5	Atxn7^tm1Hzo/Atxn7^+ Kat2a^tm3.1Roth/Kat2a^+	involves: 129 * 129S7/SvEvBrd	MGI:5315460
cx6	Atxn7^tm1Hzo/Atxn7^+ Kat2a^tm3Roth/Kat2a^+	involves: 129 * 129S7/SvEvBrd	MGI:5315467

Genotype
MGI:5315439

ht1

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

• ♀: 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

cellular

abnormal Bergmann glial cell morphology ( J:113150 )

• mice exhibit swollen and disoriented Bergmann glia radial processes

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

Genotype
MGI:2651696

ht2

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

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 )

• 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

decreased post-tetanic potentiation ( J:82072 )

• impaired posttetanic potentiation (PTP)

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

Genotype
MGI:3774850

ht3

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

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 7		DOID:0050958	OMIM:164500	J:107098

Genotype
MGI:5315447

cx4

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

mortality/aging

neonatal lethality, complete penetrance ( J:179021 )

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

Genotype
MGI:5315460

cx5

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

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

Genotype
MGI:5315467

cx6

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

mortality/aging

premature death ( J:179021 )

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