Phenotypes associated with this allele

• Allele Symbol: Dnajc30^{tm1(KOMP)Vlcg}
• Allele Name: targeted mutation 1, Velocigene
• Allele ID: MGI:5085552
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dnajc30^tm1(KOMP)Vlcg/Dnajc30^tm1(KOMP)Vlcg	C57BL/6N-Dnajc30^tm1(KOMP)Vlcg	MGI:6281671
cx2	Dnajc30^tm1(KOMP)Vlcg/Dnajc30^tm1(KOMP)Vlcg Tg(Thy1-YFP)HJrs/0	involves: C57BL/6J * C57BL/6N	MGI:6281683

Genotype
MGI:6281671

hm1

• Allelic Composition: Dnajc30^{tm1(KOMP)Vlcg}/Dnajc30^{tm1(KOMP)Vlcg}
• Genetic Background: C57BL/6N-Dnajc30^{tm1(KOMP)Vlcg}
• Cell Lines: 16795A-A9

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

growth/size/body

decreased body size ( J:266469 )

decreased body weight ( J:266469 )

• body weight is reduced by ~20% starting at P9-P10 and persisting until at least 2 months of age

nervous system

decreased brain size ( J:266469 )

decreased brain weight ( J:266469 )

• brain weight is reduced by ~20% at P9-P10

abnormal cerebral cortex pyramidal cell morphology ( J:266469 )

• pyramidal neurons exhibit fewer spines on the principal apical dendrite

• the total number of apical nodes and apical ends and apical total length are reduced by ~50%

• the number of basal dendrites, total number of basal nodes and basal ends and basal total length are significantly reduced

• pyramidal soma area is significantly reduced

decreased dendritic spine density ( J:266469 )

• pyramidal neurons exhibit fewer spines on the principal apical dendrite

abnormal pyramidal neuron dendrite morphology ( J:266469 )

• pyramidal neurons exhibit fewer spines on the principal apical dendrite

• the total number of apical nodes and apical ends and apical total length are reduced by ~50%

• the number of basal dendrites, total number of basal nodes and basal ends and basal total length are significantly reduced

behavior/neurological

behavior/neurological phenotype ( J:266469 )

N • mice show no differences in food intake, home-cage locomotor activity, active avoidance behavior or rotarod latency to fall relative to wild-type controls

decreased fluid intake ( J:266469 )

• mice tend to consume ~25% less water over a 24 hr period

increased anxiety-related response ( J:266469 )

• in the elevated zero maze test, mice tend to spend more time in the closed arms than in the open arms

• in a marble-burying task, mice bury fewer marbles than wild-type controls, suggesting that thigmotaxis might override their innate digging behavior

increased thigmotaxis ( J:266469 )

• in the open field test, mice show less exploratory behavior (less total distance traveled) and spend more time close to the walls during the 5-min test period; this behavior persists after 30 min of habituation

abnormal response to social novelty ( J:266469 )

• in a social novelty test, mice show increased preference for time spent with a second (new) stranger mouse and a trend for increased sniffing of that mouse, suggesting an interest in a novel social interaction

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:266469 )

N • mice show negligible alterations in glucose tolerance and insulin tolerance tests and normal respiratory exchange ratios in metabolic chambers relative to wild-type controls

increased energy expenditure ( J:266469 )

• mice show a trend towards higher energy expenditure

Genotype
MGI:6281683

cx2

• Allelic Composition: Dnajc30^{tm1(KOMP)Vlcg}/Dnajc30^{tm1(KOMP)Vlcg}; Tg(Thy1-YFP)HJrs/0
• Genetic Background: involves: C57BL/6J * C57BL/6N
• Cell Lines: 16795A-A9

nervous system

decreased corpus callosum size ( J:266469 )

• the ratio of corpus callosum:neocortex (CC:NCX) is disproportionately lower than that in wild-type controls

• the g-ratio (axon perimeter/axon+myelin perimeter) is significantly reduced, indicating decreased callosal axon thickness

abnormal cerebral cortex pyramidal cell morphology ( J:266469 )

• L5 neocortical pyramidal neurons (PNs) exhibit significantly reduced soma size

abnormal axon morphology ( J:266469 )

• EM analysis of transected corpus callosa revealed that the g-ratio (axon perimeter/axon+myelin perimeter) is significantly reduced, indicating smaller axon calibers

abnormal neuron physiology ( J:266469 )

• perforated patch recordings on neocortical pyramidal neurons revealed that the resting membrane potential is significantly more negative than that in wild-type neurons, consistent with lower intracellular ATP levels

• following treatment with tolbutamide (a K⁺_ATP channel inhibitor), pyramidal neurons fail to exhibit a more positive membrane potential, unlike in wild-type neurons

• following treatment with sodium azide (NaN₃), a complex IV inhibitor that indirectly decreases ATP, pyramidal neurons fail to exhibit a significant decrease in membrane potential, unlike in wild-type neurons

cellular

abnormal mitochondrial morphology ( J:266469 )

• EM analysis of L5 neocortical pyramidal neurons revealed an increase in mitochondrial density and a more rounded shape, consistent with increased mitochondrial fission

• however, cumulative mitochondrial coverage, area, and perimeter remain normal

abnormal mitochondrial shape ( J:266469 )

• L5 neocortical pyramidal neurons exhibit a more rounded mitochondrial shape (decreased aspect ratio)

increased mitochondrial number ( J:266469 )

• L5 neocortical pyramidal neurons exhibit an increase in mitochondrial density

abnormal mitochondrial physiology ( J:266469 )

• isolated neocortical mitochondria exhibit reduced ATP production in a luciferase-based ATP synthesis assay

• however, mitochondrial membrane potential and reactive oxygen species (ROS) production are normal

increased mitochondrial fission ( J:266469 )

• L5 neocortical pyramidal neurons exhibit dysmorphic mitochondria typical of increased mitochondrial fission

homeostasis/metabolism

decreased oxygen consumption ( J:266469 )

• cultured primary neocortical neurons show a significant reduction in basal oxygen consumption rate (OCR) relative to wild-type neurons

• following FCCP treatment to maximize mitochondrial respiration, primary neocortical neurons cannot respire at as high of a rate as wild-type neurons

• however, no differences in OCR are observed in response to oligomycin or antimycinA/rotenone treatment (OXPHOS-inhibiting drugs)