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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Ap3d1
adaptor-related protein complex 3, delta 1 subunit
MGI:107734
41 phenotypes from 4 alleles in 8 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Ap3d1m1Btlr/Ap3d1m1Btlr
C57BL/6J-Ap3d1m1Btlr 		diluted coat color J:203758
Ap3d1mh-2J/Ap3d1mh-2J
C3H/HeJ-Ap3d1mh-2J/J 		diluted coat color J:82264
Ap3d1mh-2J/Ap3d1mh-2J
involves: C3H/HeJ 		normal nervous system phenotype J:96307
Ap3d1mh-2J/Ap3d1mh-2J
involves: C3H/HeJ * C57BL/6J 		normal hearing/vestibular/ear phenotype J:82264
hyperactivity J:82264
Ap3d1mh-2J/Ap3d1mh-2J
involves: C3H/HeJ * C57BL/6J * CAST/Ei 		abnormal auditory brainstem response J:59842
abnormal spike wave discharge J:59842
Ap3d1mh-4J/Ap3d1mh-4J
involves: 129P2/OlaHsd * BALB/cByJ * C57BL/6J 		decreased body size J:207448
head tilt J:207448
increased or absent threshold for auditory brainstem response J:207448
male infertility J:207448
reduced female fertility J:207448
tremors J:207448
Ap3d1mh/Ap3d1mh
B6.C3-Grxcr1pi 		abnormal fertility/fecundity J:5511
abnormal hearing physiology J:5511
abnormal inner ear morphology J:5511
abnormal inner ear vestibule morphology J:5511
abnormal motor capabilities/coordination/movement J:5511
abnormal otolith morphology J:5511, J:89392
abnormal stria vascularis morphology J:5511
absent linear vestibular evoked potential J:89392
cochlear ganglion degeneration J:5511
decreased brain zinc level J:50662
decreased eye pigmentation J:5511
diluted coat color J:5511
head tilt J:5511
hyperactivity J:5511
increased bleeding time J:88018
organ of Corti degeneration J:5511
postnatal growth retardation J:5511
postnatal lethality, incomplete penetrance J:5511
Ap3d1mh/Ap3d1mh
STOCK Mfsd12gr +/+ Ap3d1mh/J 		abnormal auditory brainstem response J:59842
abnormal brain wave pattern J:96307
abnormal inner ear vestibule morphology J:7485
abnormal nervous system physiology J:94942
abnormal platelet dense granule morphology J:29151
abnormal proximal convoluted tubule morphology J:29151
abnormal retina pigment epithelium morphology J:29151
abnormal spike wave discharge J:59842
abnormal synaptic dopamine release J:163596
absent linear vestibular evoked potential J:116914
absent otoliths J:7485
decreased lysosomal enzyme secretion J:29151
decreased platelet aggregation J:29151
decreased platelet dense granule number J:29151
decreased platelet serotonin level J:29151
enhanced sensorimotor gating J:59842
normal hematopoietic system phenotype J:71349
increased bleeding time J:29151
postnatal lethality J:7485
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
12/17/2024
MGI 6.24 		The Jackson Laboratory