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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Ap4e1
adaptor-related protein complex AP-4, epsilon 1
MGI:1336993
69 phenotypes from 5 alleles in 13 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Ap4e1em1(IMPC)Bay/Ap4e1+
C57BL/6N-Ap4e1em1(IMPC)Bay/Bay 		abnormal coat appearance J:211773
unresponsive to tactile stimuli J:211773
Ap4e1em1(IMPC)Bay/Ap4e1em1(IMPC)Bay
C57BL/6N-Ap4e1em1(IMPC)Bay/Bay 		abnormal coat appearance J:211773
preweaning lethality, incomplete penetrance J:211773
unresponsive to tactile stimuli J:211773
Ap4e1em1(IMPC)J/Ap4e1+
C57BL/6NJ-Ap4e1em1(IMPC)J/J 		abnormal sleep behavior J:211773
decreased circulating glucose level J:211773
increased circulating free fatty acids level J:211773
increased circulating sodium level J:211773
Ap4e1em1(IMPC)J/Ap4e1em1(IMPC)J
C57BL/6NJ-Ap4e1em1(IMPC)J/J 		abnormal sleep behavior J:211773
decreased circulating free fatty acids level J:211773
decreased circulating triglyceride level J:211773
decreased exploration in new environment J:211773
decreased vertical activity J:211773
limb grasping J:211773
Ap4e1em2(IMPC)Mbp/Ap4e1em2(IMPC)Mbp
C57BL/6NCrl-Ap4e1em2(IMPC)Mbp/Mmucd 		abnormal cholesterol homeostasis J:211773
decreased heart rate J:211773
increased circulating aspartate transaminase level J:211773
prolonged RR interval J:211773
Ap4e1tm1a(KOMP)Wtsi/Ap4e1tm1a(KOMP)Wtsi
C57BL/6N-Ap4e1tm1a(KOMP)Wtsi/Wtsi 		abnormal behavior J:175295
abnormal femur morphology J:175295
decreased hemoglobin content J:175295
decreased mean corpuscular hemoglobin J:175295
increased bone mineral density J:175295
increased lean body mass J:175295
Ap4e1tm1a(KOMP)Wtsi/Ap4e1tm1a(KOMP)Wtsi
involves: C57BL/6N 		anemia J:200082
decreased corpus callosum size J:200082
decreased vertical activity J:200082
enlarged lateral ventricles J:200082
Ap4e1tm1b(KOMP)Wtsi/Ap4e1tm1b(KOMP)Wtsi
C57BL/6N-Ap4e1tm1b(KOMP)Wtsi/Bay 		abnormal retina inner nuclear layer morphology J:211773
abnormal spleen morphology J:211773
decreased cardiac output J:211773
decreased heart rate J:211773
decreased total retina thickness J:211773
Ap4e1tm1b(KOMP)Wtsi/Ap4e1tm1b(KOMP)Wtsi
C57BL/6N-Ap4e1tm1b(KOMP)Wtsi/Ccpcz 		abnormal cholesterol homeostasis J:211773
abnormal freezing behavior J:211773
abnormal inspiratory capacity J:211773
abnormal testis morphology J:211773
abnormal vertebrae morphology J:211773
abnormal vertebral arch morphology J:211773
decreased anxiety-related response J:211773
decreased circulating chloride level J:211773
decreased prepulse inhibition J:211773
hyperactivity J:211773
increased erythrocyte cell number J:211773
increased fasting circulating glucose level J:211773
increased hemoglobin content J:211773
increased lung compliance J:211773
small testis J:211773
Ap4e1tm1b(KOMP)Wtsi/Ap4e1tm1b(KOMP)Wtsi
C57BL/6N-Ap4e1tm1b(KOMP)Wtsi/Ieg 		abnormal lens morphology J:211773
decreased total retina thickness J:211773
hyperactivity J:211773
impaired glucose tolerance J:211773
increased cardiac muscle contractility J:211773
increased circulating amylase level J:211773
increased exploration in new environment J:211773
increased startle reflex J:211773
Ap4e1tm1b(KOMP)Wtsi/Ap4e1tm1b(KOMP)Wtsi
C57BL/6N-Ap4e1tm1b(KOMP)Wtsi/J 		abnormal behavior J:211773
abnormal sleep behavior J:211773
decreased circulating glucose level J:211773
decreased thigmotaxis J:211773
decreased total body fat amount J:211773
decreased vertical activity J:211773
hyperactivity J:211773
Ap4e1tm1b(KOMP)Wtsi/Ap4e1tm1b(KOMP)Wtsi
C57BL/6N-Ap4e1tm1b(KOMP)Wtsi/MbpMmucd 		abnormal kidney morphology J:211773
abnormal spleen morphology J:211773
abnormal testis morphology J:211773
decreased grip strength J:211773
decreased mean corpuscular hemoglobin J:211773
decreased mean corpuscular hemoglobin concentration J:211773
decreased total body fat amount J:211773
enlarged spleen J:211773
hyperactivity J:211773
increased bone mineral content J:211773
increased kidney weight J:211773
increased lean body mass J:211773
increased red blood cell distribution width J:211773
increased startle reflex J:211773
small testis J:211773
Ap4e1tm1b(KOMP)Wtsi/Ap4e1tm1b(KOMP)Wtsi
C57BL/6N-Ap4e1tm1b(KOMP)Wtsi/Orl 		abnormal retina inner nuclear layer morphology J:211773
decreased grip strength J:211773
decreased total body fat amount J:211773
decreased total retina thickness J:211773
increased prepulse inhibition J:211773
Ap4e1tm1b(KOMP)Wtsi/Ap4e1tm1b(KOMP)Wtsi
C57BL/6N-Ap4e1tm1b(KOMP)Wtsi/Ucd 		abnormal freezing behavior J:211773
abnormal sinus arrhythmia J:211773
cardiovascular system phenotype J:211773
decreased heart rate variability J:211773
decreased total body fat amount J:211773
enlarged lymph nodes J:211773
hyperactivity J:211773
impaired contextual conditioning behavior J:211773
increased bone mineral content J:211773
increased lean body mass J:211773
increased startle reflex J:211773
Ap4e1tm1b(KOMP)Wtsi/Ap4e1tm1b(KOMP)Wtsi
C57BL/6N-Ap4e1tm1b(KOMP)Wtsi/Wtsi 		decreased respiratory quotient J:211773
decreased total body fat amount J:211773
hyperactivity J:211773
increased bone mineral content J:211773
increased circulating alkaline phosphatase level J:211773
increased circulating aspartate transaminase level J:211773
increased circulating creatine kinase level J:211773
increased grip strength J:211773
increased hematocrit J:211773
increased kidney weight J:211773
increased prepulse inhibition J:211773
increased startle reflex J:211773
limb grasping J:211773
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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04/09/2024
MGI 6.23 		The Jackson Laboratory