Phenotypes associated with this allele

• Allele Symbol: Kif3b^tm1Noh
• Allele Name: targeted mutation 1, Nobukata Hirakawa
• Allele ID: MGI:2181744
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kif3b^tm1Noh/Kif3b^tm1Noh	involves: 129S4/SvJae * C57BL/6J	MGI:3512509
ht2	Kif3b^tm1Noh/Kif3b^+	involves: 129S4/SvJae * C57BL/6J	MGI:6423106

Genotype
MGI:3512509

hm1

• Allelic Composition: Kif3b^tm1Noh/Kif3b^tm1Noh
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:51419 )

• homozygotes die around midgestation; no homozygotes survive beyond 12.5 dpc

cardiovascular system

abnormal direction of heart looping ( J:51419 )

• ~35% of homozygotes exhibit reversed heart L-loops; the remainder have normal D-loops

distended pericardium ( J:51419 )

• at 9.5 dpc, homozygotes exhibit balooning of the pericardial sac

embryo

absent embryonic cilia ( J:51419 )

• at 7.5 dpc, mutant embryos completely lack motile nodal cilia

incomplete embryo turning ( J:51419 )

• at 9.5 dpc, most homozygotes remain unturned

• homozygotes that start embryo turning curl their tails to either the left or right side of their bodies; in contrast, wild-type embryos consistently curl their tails to the right

abnormal left-right axis patterning ( J:51419 )

• at 7.5 dpc, mutant embryos fail to generate a leftward nodal flow, suggesting impaired L-R determination; in contrast, basal bodies are still present

decreased embryo size ( J:51419 )

• at 9.5 dpc, homozygotes are smaller than wild-type embryos

• the seemingly longer crown-rump lengths of homozygotes reflect their looser body curling

open neural tube ( J:51419 )

• at 11.5 dpc, the rostral neural tube remains open resulting in exencephaly

growth/size/body

decreased embryo size ( J:51419 )

• at 9.5 dpc, homozygotes are smaller than wild-type embryos

• the seemingly longer crown-rump lengths of homozygotes reflect their looser body curling

nervous system

open neural tube ( J:51419 )

• at 11.5 dpc, the rostral neural tube remains open resulting in exencephaly

exencephaly ( J:51419 )

• at 11.5 dpc, homozygotes display a mushroom-like exencephaly

abnormal spinal cord morphology ( J:51419 )

• at 11.5 dpc, developing spinal cords appear staggered in more caudal regions

cellular

absent embryonic cilia ( J:51419 )

• at 7.5 dpc, mutant embryos completely lack motile nodal cilia

Genotype
MGI:6423106

ht2

• Allelic Composition: Kif3b^tm1Noh/Kif3b⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

behavior/neurological

increased exploration in new environment ( J:286227 )

• mice exhibit a higher level of exploratory behavior in the open field

impaired spatial learning ( J:286227 )

• in the Barnes maze, mice take longer to remember a position of escape during training sessions and probe trial, however once they recognize the position, they sustain the memory, indicating impaired spatial memory formation but the ability to maintain long-term memory

• in the reverse Barnes maze, mice take a longer time to reach the new position of escape, suggesting a lower learning flexibility

decreased thigmotaxis ( J:286227 )

• in the elevated plus-maze, mice spend a much longer time in the open arms than controls, indicating lower anxiety

abnormal response to novel object ( J:286227 )

• in the novel object recognition test, mice show less interest in the novel object than controls

increased grooming behavior ( J:286227 )

increased stereotypic behavior ( J:286227 )

• mice exhibit a higher level of repetitive behavior such as jumping and rotating activity in the open field

abnormal social investigation ( J:286227 )

• mice exhibit lower social activity (contact and follow) in the open field

• in the three-chamber type of social interaction test, mice show a lower level of social interest

nervous system

abnormal brain weight ( J:286227 )

• brain weight is lower in the early developmental stage but increased in the pruning period after P14

decreased corpus callosum size ( J:286227 )

• thickness of the corpus callosum in the hippocampal CA3 area is decreased

thin hippocampus stratum radiatum ( J:286227 )

• thickness of the stratum radiatum in the hippocampus is decreased

abnormal hippocampus neuron morphology ( J:286227 )

• cultured hippocampal neurons show a slight but significantly enlarged mean size of the growth cone

• the number of filopodia on the growth cone of hippocampal neurons is decreased

• the width of the growth cone of hippocampal neurons is shortened

abnormal dendritic spine morphology ( J:286227 )

• hippocampal neurons show a decrease in the density of stubby spines and a slight increase in the density of mushroom spine

abnormal dendritic mushroom spine morphology ( J:286227 )

• the number of spinules on top of the head of mushroom spines is increased in neuronal dendrites

• the mean head size and length of neck is increased in mushroom spines

impaired synaptic plasticity ( J:286227 )

reduced NMDA-mediated synaptic currents ( J:286227 )

• the NMDAR-mediated excitatory postsynaptic currents are reduced in hippocampal slices

• however, the current-voltage relationships of NMDAR channel currents are not different

enhanced long-term potentiation ( J:286227 )

• long-term potentiation is increased in hippocampal slices

decreased prepulse inhibition ( J:286227 )

• in the prepulse inhibition test, the extent of inhibition with the prepulse is smaller than in controls

• however, the acoustic startle response is similar to controls

reduced long-term depression ( J:286227 )

• long-term depression is decreased in hippocampal slices

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
schizophrenia		DOID:5419	OMIM:181500	J:286227