Phenotypes associated with this allele

• Allele Symbol: Kif1a^tm1Noh
• Allele Name: targeted mutation 1, Nobutaka Hirokawa
• Allele ID: MGI:3639347
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kif1a^tm1Noh/Kif1a^tm1Noh	involves: 129S4/SvJae * C57BL/6	MGI:3652680

Genotype
MGI:3652680

hm1

• Allelic Composition: Kif1a^tm1Noh/Kif1a^tm1Noh
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

Gross appearance and small size of Kif1a^tm1Noh/Kif1a^tm1Noh mice

mortality/aging

neonatal lethality, incomplete penetrance ( J:47170 )

• most mice die within one day of birth; remainder die within 72 hours

postnatal lethality, complete penetrance ( J:47170 )

• most mice die within one day of birth; remainder die within 72 hours

growth/size/body

decreased birth body size ( J:47170 )

• at birth, homozygotes are smaller than wild-type littermates

decreased birth weight ( J:47170 )

• at birth, homozygotes weigh ~10% less than wild-type littermates

behavior/neurological

hyporesponsive to tactile stimuli ( J:47170 )

• 56% of mice exhibit a weak response to a neck pinch

unresponsive to tactile stimuli ( J:47170 )

• homozygous mice do not vocalize when tail is pinched

abnormal motor coordination/balance ( J:47170 )

• homozygotes display abnormal limb movements; hindlimbs are more severely affected than forelimbs

ataxia ( J:47170 )

• mice are essentially ataxic

impaired balance ( J:47170 )

• homozygotes show impaired balance

decreased locomotor activity ( J:47170 )

• mice show reduced motor activity

nervous system

abnormal synaptic vesicle number ( J:47170 )

• there is decreased density of synaptic terminals and synaptic vesicles in spinal cords of homozygotes

neuron degeneration ( J:47170 )

• extensive neurodegeneration is found in the cerebrum, rhinencephalon, and amygdaloid areas of mutants; degenerative neurons are characterized by severe swelling of the cytoplasm and nuclei with a number of vacuoles around these neurons

• some hippocampal neuronal degeneration is observed

• in culture, mutant hippocampal neurons show degeneration after 7-8 days; after 13 days in culture, 90% of neurons are dead compared with only ~25% death of wild-type neurons

axon degeneration ( J:47170 )

• in hippocampal fimbrias, many axons are dilated and filled with large autophagic organelles

abnormal nervous system physiology ( J:47170 )

abnormal synaptic vesicle clustering ( J:47170 )

• abnormal clustering of small vesicles in spinal cords of homozygotes is observed