All Phenotypes Kat2a<tm3.1Roth> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kat2a^tm3.1Roth/Kat2a^tm3.1Roth	involves: 129	MGI:3801320
ht2	Kat2a^tm3Roth/Kat2a^tm3.1Roth	involves: 129	MGI:3801323
cn3	Kat2a^tm3.1Roth/Kat2a^tm3.2Roth Tg(Pcp2-cre)2Mpin/0	involves: 129	MGI:5315468
cx4	Atxn7^tm1Hzo/Atxn7⁺ Kat2a^tm3.1Roth/Kat2a⁺	involves: 129 * 129S7/SvEvBrd	MGI:5315460
cx5	Atxn7^tm1Hzo/Atxn7^tm1Hzo Kat2a^tm3.1Roth/Kat2a⁺	involves: 129 * 129S7/SvEvBrd	MGI:5315461

Allelic Composition	Kat2a^tm3.1Roth/Kat2a^tm3.1Roth
Genetic Background	involves: 129

Find Mice

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

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:132940 )

• all mice are dead by E10.5

embryo

abnormal embryo development ( J:132940 )

• mice exhibit the same phenotype observed in Kat2a^tm1Roth homozygous mice

growth/size/body

abnormal embryonic growth/weight/body size ( J:132940 )

• mice exhibit the same phenotype observed in Kat2a^tm1Roth homozygous mice

Allelic Composition	Kat2a^tm3Roth/Kat2a^tm3.1Roth
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kat2a^tm3.1Roth mutation (1 available); any Kat2a mutation (40 available)
Kat2a^tm3Roth mutation (0 available); any Kat2a mutation (40 available)

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

nervous system

exencephaly ( J:132940 )

• in 38% mice at E18.5

respiratory system

abnormal breathing pattern ( J:132940 )

• mice removed from mothers at E18.5 die within minutes with difficulty breathing

Allelic Composition	Kat2a^tm3.1Roth/Kat2a^tm3.2Roth Tg(Pcp2-cre)2Mpin/0
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kat2a^tm3.1Roth mutation (1 available); any Kat2a mutation (40 available)
Kat2a^tm3.2Roth mutation (1 available); any Kat2a mutation (40 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)

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

behavior/neurological

behavior/neurological phenotype ( J:179021 )

N	• mutants exhibit normal hind limb extension in tail suspensions assays

abnormal gait ( J:179021 )

• mutants develop a mildly uncoordinated gait with wider paired distance

nervous system

abnormal cerebellum vermis morphology ( J:179021 )

• the cerebellar vermis is smaller

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

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