Phenotypes associated with this allele

• Allele Symbol: Kif1b^tm1Noh
• Allele Name: targeted mutation 1, Nobutaka Hirokawa
• Allele ID: MGI:2387573
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kif1b^tm1Noh/Kif1b^tm1Noh	involves: 129S4/SvJae * C57BL/6J	MGI:2387932
ht2	Kif1b^tm1Noh/Kif1b^+	involves: 129S4/SvJae * C57BL/6J	MGI:2387931

Genotype
MGI:2387932

hm1

• Allelic Composition: Kif1b^tm1Noh/Kif1b^tm1Noh
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:69772 )

• animals died within 30 minutes of birth

behavior/neurological

unresponsive to tactile stimuli ( J:69772 )

• absent response in tail pinch and neck pinch tests

respiratory system

respiratory failure ( J:69772 )

• animals did not breathe, but lung structure and intercostal muscles appeared normal

skeleton

lordosis ( J:69772 )

• with dropping forelimbs

nervous system

decreased brain size ( J:69772 )

• small brain size; 10% smaller than normal

abnormal brain commissure morphology ( J:69772 )

• abnormal commissural fibers

abnormal brainstem morphology ( J:69772 )

• abnormal brain stem nuclei

abnormal hippocampus morphology ( J:69772 )

• hypocellularity and organization anomalies

decreased neuron number ( J:69772 )

• reduced number of neurons; less than 25% of controls; noted especially in the dorsal and ventral medullary reticular nuclei

abnormal synaptic vesicle number ( J:69772 )

• nerve terminals in the anterior horn areas of the spinal cord have reduced density of synaptic vesicles

abnormal spinal cord ventral horn morphology ( J:69772 )

• nerve terminals in the anterior horn areas of the spinal cord have reduced density of synaptic vesicles

Genotype
MGI:2387931

ht2

• Allelic Composition: Kif1b^tm1Noh/Kif1b⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

behavior/neurological

abnormal motor coordination/balance ( J:69772 )

• staggering; onset at approximately one year of age; progressive

impaired coordination ( J:69772 )

• at 12 months of age, impairment was observed in a rotarod test and a balance beam test

muscle

progressive muscle weakness ( J:69772 )

• at 12 months of age, evoked compound action potential amplitudes were significantly reduced; the conduction velocity was unaffected

nervous system

abnormal axonal transport ( J:69772 )

• impaired vesicle transport in peripheral nerves

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 2A1		DOID:0110154	OMIM:118210	J:69772