Synj1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Synj1
synaptojanin 1
MGI:1354961

34 phenotypes from 4 alleles in 4 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Synj1^{Gt(pT1ATGBetageo)1Ruiz}/Synj1^{Gt(pT1ATGBetageo)1Ruiz} involves: 129S2/SvPas * C57BL/6	perinatal lethality, complete penetrance	J:85162
Synj1^{tm1b(EUCOMM)Wtsi}/Synj1⁺ C57BL/6N-Synj1^{tm1b(EUCOMM)Wtsi}/H	decreased monocyte cell number	J:211773
	decreased neutrophil cell number	J:211773
	decreased red blood cell distribution width	J:211773
	increased lymphocyte cell number	J:211773
	persistence of hyaloid vascular system	J:211773
	tremors	J:211773
Synj1^{tm1b(EUCOMM)Wtsi}/Synj1^{tm1b(EUCOMM)Wtsi} C57BL/6N-Synj1^{tm1b(EUCOMM)Wtsi}/H	preweaning lethality, complete penetrance	J:211773
Synj1^tm1Pdc/Synj1^tm1Pdc involves: 129S1/Sv * C57BL/6	ataxia	J:58087
	convulsive seizures	J:58087
	increased synaptic depression	J:58087
	neonatal lethality, incomplete penetrance	J:58087
	postnatal growth retardation	J:58087
	postnatal lethality, complete penetrance	J:58087
	weakness	J:58087
Synj1^tm2.1Pdc/Synj1^tm2.1Pdc involves: 129S6/SvEvTac * C57BL/6J	abnormal dopaminergic neuron morphology	J:256037
	abnormal locomotor behavior	J:256037
	abnormal motor coordination/balance	J:256037
	abnormal resting posture	J:256037
	abnormal synapse morphology	J:256037
	abnormal synaptic bouton morphology	J:256037
	abnormal synaptic vesicle endocytosis	J:256037
	abnormal synaptic vesicle recycling	J:256037
	ataxia	J:256037
	decreased body size	J:256037
	decreased grip strength	J:256037
	decreased survivor rate	J:256037
	environmentally induced seizures	J:256037
	impaired coordination	J:256037
	limb grasping	J:256037
	postnatal lethality, incomplete penetrance	J:256037
	prenatal lethality, incomplete penetrance	J:256037
	seizures	J:256037
	sudden unexpected death in epilepsy	J:256037
	tonic-clonic seizures	J:256037

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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