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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Ndufs4
NADH:ubiquinone oxidoreductase core subunit S4
MGI:1343135
93 phenotypes from 4 alleles in 10 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Ndufs4fky/Ndufs4fky
C57BL/6-Ndufs4fky 		abnormal circulating amino acid level J:186512
abnormal motor capabilities/coordination/movement J:186512
circling J:186512
decreased body size J:186512
focal hair loss J:186512
head tilt J:186512
increased circulating carnitine level J:186512
increased circulating glycine level J:186512
increased circulating phenylalanine level J:186512
limb grasping J:186512
postnatal growth retardation J:186512
premature death J:186512
Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
B6.129S4-Ndufs4tm1.1Rpa 		abnormal blood homeostasis J:190475
abnormal breathing pattern J:190475
abnormal cerebellum fastigial nucleus morphology J:190475
abnormal cerebellum lobule morphology J:190475
abnormal medulla oblongata morphology J:190475
abnormal olfactory bulb external plexiform layer morphology J:190475
abnormal pre-Botzinger complex physiology J:190475
abnormal pulmonary ventilation J:190475
alopecia J:190475
apnea J:190475
ataxia J:190475
brain vacuoles J:190475
decreased body size J:190475
decreased body temperature J:190475
decreased heart rate J:190475
decreased pulmonary respiratory rate J:190475
gliosis J:190475
hypotonia J:190475
lethargy J:190475
microgliosis J:190475
neurodegeneration J:190475
postnatal growth retardation J:190475
premature death J:190475
respiratory distress J:190475
Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
involves: 129/Sv * 129S4/SvJaeSor * C57BL/6 		abnormal eye electrophysiology J:134334
abnormal mitochondrial ATP synthesis coupled electron transport J:134334
abnormal motor coordination/balance J:134334
ataxia J:134334
blindness J:134334
cataract J:134334
decreased body size J:134334
decreased body temperature J:134334
decreased startle reflex J:134334
hunched posture J:134334
impaired balance J:134334
impaired righting response J:134334
lethargy J:134334
limb grasping J:134334
normal nervous system phenotype J:134334
postnatal growth retardation J:134334
premature death J:134334
sparse hair J:134334
Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
involves: 129S4/SvJaeSor 		abnormal body weight J:161393
abnormal brain vasculature morphology J:161393
abnormal breathing pattern J:161393
abnormal emotion/affect behavior J:161393
abnormal gait J:161393
abnormal mitochondrial ATP synthesis coupled electron transport J:201547
abnormal mitochondrial crista morphology J:161393
abnormal motor coordination/balance J:161393
abnormal muscle tone J:161393
abnormal nest building behavior J:161393
abnormal neuron morphology J:161393
abnormal neuron physiology J:161393
abnormal posture J:161393
abnormal sensory capabilities/reflexes/nociception J:161393
abnormal skin appearance J:161393
abnormal vision J:161393
astrocytosis J:161393
ataxia J:161393
axonal spheroids J:161393
blepharoptosis J:161393
brain vacuoles J:161393
brainstem hemorrhage J:161393
cataract J:161393
circling J:161393
decreased aggression J:161393
decreased body length J:161393
decreased body size J:161393
decreased body temperature J:161393
decreased grooming behavior J:161393
decreased heart rate J:161393
decreased locomotor activity J:161393
decreased startle reflex J:161393
decreased vocalization J:161393
environmentally induced seizures J:161393
gliosis J:161393
hyperekplexia J:161393
hyporesponsive to tactile stimuli J:161393
impaired balance J:161393
impaired coordination J:161393
impaired righting response J:161393
impaired swimming J:161393
intracranial hemorrhage J:161393
kyphosis J:161393
lethargy J:161393
limb grasping J:161393
microgliosis J:161393
neuron degeneration J:161393
optic nerve atrophy J:161393
oxidative stress J:161393
positive geotaxis J:161393
postnatal growth retardation J:161393
premature hair loss J:161393
Purkinje cell degeneration J:161393
respiratory distress J:161393
retropulsion J:161393
seizures J:161393
spongiform encephalopathy J:161393
straub tail J:161393
tail dragging J:161393
tremors J:161393
trunk curl J:161393
Ndufs4tm1Capt/Ndufs4+
involves: 129S6/SvEvTac * C57BL/6NTac 		abnormal enzyme/coenzyme activity J:192154
abnormal respiratory electron transport chain J:192154
Ndufs4tm1Rpa/Ndufs4tm1Rpa
B6.129S4-Ndufs4tm1Rpa 		abnormal pulmonary ventilation J:190475
impaired coordination J:190475
microgliosis J:190475
premature death J:190475
respiratory distress J:190475
weight loss J:190475
Ndufs4tm1Rpa/Ndufs4tm1Rpa
involves: 129S4/SvJaeSor * C57BL/6 		no abnormal phenotype detected J:134334
Ndufs4tm1Rpa/Ndufs4tm1Rpa
Tg(Nes-cre)1Kln/0
B6.Cg-Tg(Nes-cre)1Kln Ndufs4tm1Rpa 		abnormal blood homeostasis J:190475
abnormal breathing pattern J:190475
abnormal cerebellum fastigial nucleus morphology J:190475
abnormal cerebellum lobule morphology J:190475
abnormal medulla oblongata morphology J:190475
abnormal olfactory bulb external plexiform layer morphology J:190475
abnormal pre-Botzinger complex physiology J:190475
abnormal pulmonary ventilation J:190475
alopecia J:190475
apnea J:190475
ataxia J:190475
brain vacuoles J:190475
decreased body size J:190475
decreased body temperature J:190475
decreased heart rate J:190475
decreased pulmonary respiratory rate J:190475
gliosis J:190475
hypotonia J:190475
lethargy J:190475
microgliosis J:190475
neurodegeneration J:190475
postnatal growth retardation J:190475
premature death J:190475
respiratory distress J:190475
Ndufs4tm1Rpa/Ndufs4tm1Rpa
Tg(Nes-cre)1Kln/0
involves: 129S4/SvJaeSor * C57BL/6 * SJL 		abnormal brain vasculature morphology J:161393
abnormal breathing pattern J:161393
abnormal emotion/affect behavior J:161393
abnormal gait J:161393
abnormal motor coordination/balance J:161393
abnormal muscle tone J:161393
abnormal nest building behavior J:161393
abnormal posture J:161393
abnormal respiratory electron transport chain J:161393
abnormal sensory capabilities/reflexes/nociception J:161393
abnormal vision J:161393
astrocytosis J:161393
ataxia J:161393
blepharoptosis J:161393
brain vacuoles J:161393
brainstem hemorrhage J:161393
cataract J:161393
circling J:161393
decreased aggression J:161393
decreased body length J:161393
decreased body size J:161393
decreased body temperature J:161393
decreased grooming behavior J:161393
decreased heart rate J:161393
decreased locomotor activity J:161393
decreased startle reflex J:161393
decreased vocalization J:161393
environmentally induced seizures J:161393
gliosis J:161393
hyperekplexia J:161393
hyporesponsive to tactile stimuli J:161393
impaired balance J:161393
impaired coordination J:161393
impaired righting response J:161393
impaired swimming J:161393
normal integument phenotype J:161393
intracranial hemorrhage J:161393
kyphosis J:161393
lethargy J:161393
limb grasping J:161393
microgliosis J:161393
optic nerve atrophy J:161393
positive geotaxis J:161393
postnatal growth retardation J:161393
premature death J:161393
respiratory distress J:161393
retropulsion J:161393
seizures J:161393
spongiform encephalopathy J:161393
straub tail J:161393
tail dragging J:161393
tonic-clonic seizures J:161393
tremors J:161393
trunk curl J:161393
weight loss J:161393
Ndufs4tm1Rpa/Ndufs4tm1Rpa
Tg(Pcp2-cre)3555Jdhu/0
involves: 129S4/SvJaeSor * C3H/HeNCrMtv- * C57BL/6NCr 		normal behavior/neurological phenotype J:161393
normal nervous system phenotype J:161393
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory