All Phenotypes Rnu2-8<nmf291> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Rnu2-8^nmf291
neuroscience mutagenesis facility, 291
MGI:3054730

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rnu2-8^nmf291/Rnu2-8^nmf291	B6;129-Rnu2-8^nmf291/J	MGI:3054781
hm2	Rnu2-8^nmf291/Rnu2-8^nmf291	involves: 129S4/SvJae * C57BL/6J	MGI:5302821
ht3	Rnu2-8^nmf291/Rnu2-8⁺	involves: 129S4/SvJae * C57BL/6J	MGI:5302823
cn4	Rnu2-8^nmf291/Rnu2-8^nmf291 Snip1^M1Yiji/Snip1⁺	involves: 129S4/SvJae * C57BL/6J	MGI:7738297
cx5	Rnu2-8^nmf291/Rnu2-8^nmf291 Snip1^em1Yiji/Snip1⁺	involves: 129S4/SvJae * C57BL/6J	MGI:7738298

Allelic Composition	Rnu2-8^nmf291/Rnu2-8^nmf291
Genetic Background	B6;129-Rnu2-8^nmf291/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnu2-8^nmf291 mutation (1 available); any Rnu2-8 mutation (1 available)

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

behavior/neurological

abnormal gait ( J:87349 )

• early manifestations of the mutant phenotype are a tendency to walk on the toes of the hind feet and a slight side-to-side sway; by approximately 11 weeks of age, mutant mice exhibit a staggering gait with a pronounced side-to-side sway that sometimes causes them to lose their balance and fall over

nervous system

abnormal cerebellum morphology ( J:87349 )

• standard pathology screen of three mutants aged 84-138 days revealed severe loss of granule cells

muscle

progressive muscle weakness ( J:87349 )

• mutant mice exhibit progressive hind limb weakness, evidenced by splaying of their hind legs during locomotion

Allelic Composition	Rnu2-8^nmf291/Rnu2-8^nmf291
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnu2-8^nmf291 mutation (1 available); any Rnu2-8 mutation (1 available)

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

behavior/neurological

ataxia ( J:179357 , J:354967 )

• mice develop mild tremors by 8 weeks age and progress to truncal ataxia by 12 weeks of age (J:179357)

mortality/aging

premature death ( J:354967 )

• mice show lethality around 4-5 months of age

nervous system

abnormal cerebellar granule cell morphology ( J:179357 )

• granule cells with pyknotic nuclei are observed beginning at 4 weeks of age

decreased cerebellar granule cell number ( J:179357 )

• granule cells undergo apoptosis beginning at P30, by 4 months of age most granule cells have degenerated

small cerebellum ( J:179357 )

• overall size of cerebellum is dramatically reduced in 4 month old mice

neuron degeneration ( J:179357 , J:354967 )

• cerebellar granule cells undergo apoptosis beginning at P30, by 4 months of age most granule cells have degenerated (J:179357)

• granule cell degeneration in the dentate gyrus region of the hippocampus is observed in 4 month old mice (J:179357)

• mice exhibit neurodegeneration in the cerebellum by 4 months of age (J:354967)

Allelic Composition	Rnu2-8^nmf291/Rnu2-8⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnu2-8^nmf291 mutation (1 available); any Rnu2-8 mutation (1 available)

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

behavior/neurological

tremors ( J:179357 )

• mild tremors are observed in 2 year old mice

nervous system

decreased cerebellar granule cell number ( J:179357 )

small cerebellum ( J:179357 )

• overall size of the cerebellum is reduced in 2 year old mice

neuron degeneration ( J:179357 )

• apoptotic cerebellar granule cells are first observed in 1 month old mice, however, neuron loss is considerably less than in homozygous mice

Allelic Composition	Rnu2-8^nmf291/Rnu2-8^nmf291 Snip1^M1Yiji/Snip1⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnu2-8^nmf291 mutation (1 available); any Rnu2-8 mutation (1 available)
Snip1^M1Yiji mutation (0 available); any Snip1 mutation (19 available)

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

behavior/neurological

behavior/neurological phenotype ( J:354967 )

N	• mice exhibit rescue of the ataxia phenotype seen in Rnu2-8^{nmf291/nmf291} homozygotes

mortality/aging

extended life span ( J:354967 )

• mice exhibit extended life span compared to Rnu2-8^{nmf291/nmf291} homozygotes

Allelic Composition	Rnu2-8^nmf291/Rnu2-8^nmf291 Snip1^em1Yiji/Snip1⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnu2-8^nmf291 mutation (1 available); any Rnu2-8 mutation (1 available)
Snip1^em1Yiji mutation (0 available); any Snip1 mutation (19 available)

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

behavior/neurological

behavior/neurological phenotype ( J:354967 )

N	• mice exhibit rescue of the ataxia seen in Rnu2-8^{nmf291/nmf291} homozygotes

mortality/aging

extended life span ( J:354967 )

• mice exhibit extended life span compared to Rnu2-8^{nmf291/nmf291} homozygotes

nervous system

neuron degeneration ( J:354967 )

• mice exhibit partial rescue of the neuron loss seen in Rnu2-8^{nmf291/nmf291} homozygous cerebellum

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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