Phenotypes associated with this allele

• Allele Symbol: Rnu2-8^nmf291
• Allele Name: neuroscience mutagenesis facility, 291
• Allele ID: MGI:3054730
• Summary: 3 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

Genotype
MGI:3054781

hm1

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

• ♀: 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

Genotype
MGI:5302821

hm2

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

behavior/neurological

ataxia ( J:179357 )

• mice develop mild tremors by 8 weeks age and progress to truncal ataxia by 12 weeks 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 )

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

• granule cell degeneration in the dentate gyrus region of the hippocampus is observed in 4 month old mice

Genotype
MGI:5302823

ht3

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

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