Hexb Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Hexb
hexosaminidase B
MGI:96074

54 phenotypes from 7 alleles in 7 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Hexb^lysd/Hexb^lysd B6.Cg-Hexb^lysd/J	abnormal lipid homeostasis	J:301674
	abnormal lysosome morphology	J:301674
	abnormal vacuole morphology	J:301674
	neurodegeneration	J:301674
	tremors	J:301674
Hexb^mpc191H/Hexb^mpc191H involves: BALB/c * C3H/HeH * C57BL/6J	tremors	J:234901
Hexb^{tm1b(EUCOMM)Hmgu}/Hexb^{tm1b(EUCOMM)Hmgu} C57BL/6N-Hexb^{tm1b(EUCOMM)Hmgu}/H	abnormal gait	J:211773
	abnormal locomotor behavior	J:211773
	decreased circulating fructosamine level	J:211773
	decreased exploration in new environment	J:211773
	increased circulating alkaline phosphatase level	J:211773
	increased circulating aspartate transaminase level	J:211773
	increased circulating iron level	J:211773
	increased monocyte cell number	J:211773
	thrombocytosis	J:211773
	tremors	J:211773
Hexb^tm1Grv/Hexb^tm1Grv either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)	abnormal efferent ductules of testis morphology	J:48608
	abnormal epididymis morphology	J:48608
	abnormal fertility/fecundity	J:48608, J:81864
	abnormal nervous system physiology	J:30899
	abnormal seizure response to electrical stimulation	J:30899
	abnormal sexual interaction	J:81864
	abnormal spinal cord morphology	J:30899
	ataxia	J:30899
	enlarged caput epididymis	J:48608
	enlarged corpus epididymis	J:48608
	hindlimb paralysis	J:30899
	impaired fertilization	J:81864
	increased epididymis weight	J:48608
	lethargy	J:30899
	muscle weakness	J:30899
	premature death	J:30899
	tremors	J:30899
Hexb^tm1Rlp/Hexb⁺ involves: 129S4/SvJae * C57BL/6	premature death	J:53080
Hexb^tm1Rlp/Hexb^tm1Rlp involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	abnormal posture	J:87617
	CNS inflammation	J:90687
	decreased locomotor activity	J:87617
	decreased total body fat amount	J:87617
	increased circulating interleukin-4 level	J:87617
	increased forebrain apoptosis	J:87617
	increased immunoglobulin level	J:87617
	limb grasping	J:87617
	muscular atrophy	J:87617
	premature death	J:87617
	Purkinje cell degeneration	J:87617
Hexb^tm1Rlp/Hexb^tm1Rlp involves: 129S4/SvJae * C57BL/6	abnormal gait	J:29268
	abnormal hepatocyte morphology	J:29268
	abnormal liver morphology	J:29268
	abnormal motor capabilities/coordination/movement	J:29268
	abnormal neuron morphology	J:29268
	abnormal proximal convoluted tubule morphology	J:29268
	bradykinesia	J:190450
	impaired coordination	J:29268
	impaired righting response	J:53080
	muscular atrophy	J:29268
	premature death	J:53080, J:190450
	tremors	J:190450
	weight loss	J:190450
Hexb^tm1Rlp/Hexb^tm1Rlp Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0 involves: 129S4/SvJae * C57BL/6 * CBA	abnormal brain morphology	J:190450
	abnormal motor capabilities/coordination/movement	J:190450
	abnormal spinal cord interneuron morphology	J:190450
	bradykinesia	J:190450
	impaired limb coordination	J:190450
	microgliosis	J:190450
	muscle hypertonia	J:190450
	premature death	J:190450
	tremors	J:190450
	weight loss	J:190450
Hexb^tm1Rlp/Hexb^tm1Rlp Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa/0 involves: 129S4/SvJae * C57BL/6 * CBA	abnormal brain morphology	J:190450
	abnormal motor capabilities/coordination/movement	J:190450
	bradykinesia	J:190450
	impaired limb coordination	J:190450
	microgliosis	J:190450
	muscle hypertonia	J:190450
	premature death	J:190450
	tremors	J:190450
	weight loss	J:190450

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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