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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Hgsnat
heparan-alpha-glucosaminide N-acetyltransferase
MGI:1196297
94 phenotypes from 5 alleles in 5 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Hgsnatem1Avps/Hgsnatem1Avps
B6J(B6N)-Hgsnatem1Avps 		abnormal CNS synaptic transmission J:343336
abnormal enzyme/coenzyme activity J:343336
abnormal glycosaminoglycan level J:343336
abnormal lysosome morphology J:343336
abnormal lysosome physiology J:343336
abnormal mitophagy J:343336
abnormal postsynaptic density morphology J:343336
abnormal short-term spatial reference memory J:343336
abnormal synapse morphology J:343336
astrocytosis J:343336
decreased anxiety-related response J:343336
decreased miniature excitatory postsynaptic current amplitude J:343336
decreased miniature excitatory postsynaptic current frequency J:343336
decreased miniature inhibitory postsynaptic current amplitude J:343336
decreased miniature inhibitory postsynaptic current frequency J:343336
decreased social novelty preference J:343336
enlarged kidney J:343336
enlarged liver J:343336
hepatosplenomegaly J:343336
hyperactivity J:343336
impaired autophagy J:343336
increased cytokine level J:343336
increased endoplasmic reticulum stress J:343336
increased ganglioside level J:343336
ischuria J:343336
lethargy J:343336
microgliosis J:343336
premature death J:343336
normal skeleton phenotype J:343336
weight loss J:343336
Hgsnatem1Scher/Hgsnat+
C57BL/6J-Hgsnatem1Scher 		lethality, incomplete penetrance J:381685
Hgsnatem1Scher/Hgsnatem1Scher
C57BL/6J-Hgsnatem1Scher 		abnormal gait J:381685
abnormal glycosaminoglycan level J:381685
abnormal neuron morphology J:381685
abnormal renal glomerulus morphology J:381685
abnormal urination J:381685
brain inflammation J:381685
dilated renal tubule J:381685
enlarged liver J:381685
enlarged spleen J:381685
enlarged urinary bladder J:381685
glomerulosclerosis J:381685
increased locomotor activity J:381685
increased microglial cell activation J:381685
kidney inflammation J:381685
liver inflammation J:381685
normal mortality/aging J:381685
renal glomerulus fibrosis J:381685
short stride length J:381685
Hgsnatem4(IMPC)Tcp/Hgsnatem4(IMPC)Tcp
C57BL/6NCrl-Hgsnatem4(IMPC)Tcp/Tcp 		abnormal cholesterol homeostasis J:211773
abnormal lung morphology J:211773
decreased circulating serum albumin level J:211773
decreased exploration in new environment J:211773
decreased total body fat amount J:211773
enlarged lymph nodes J:211773
enlarged urinary bladder J:211773
increased bone mineral content J:211773
increased circulating alkaline phosphatase level J:211773
increased circulating phosphate level J:211773
increased circulating potassium level J:211773
increased lean body mass J:211773
short tibia J:211773
HgsnatGt(IST11912G1)Tigm/HgsnatGt(IST11912G1)Tigm
C57BL/6N-HgsnatGt(IST11912G1)Tigm 		abnormal abdominal fat pad morphology J:242257
abnormal autophagy J:242257
abnormal CNS synaptic transmission J:343336
abnormal enzyme/coenzyme activity J:242257
abnormal gait J:242257
abnormal glycosaminoglycan level J:242257, J:343336
abnormal hepatocyte morphology J:242257
abnormal Kupffer cell morphology J:242257
abnormal liver morphology J:242257
abnormal liver physiology J:242257
abnormal long-term spatial reference memory J:242257
abnormal lysosome physiology J:242257, J:343336
abnormal microglial cell morphology J:242257
abnormal mitophagy J:242257
abnormal neuron mitochondrial morphology J:242257
abnormal neuron morphology J:242257
abnormal postsynaptic density morphology J:343336
abnormal synapse morphology J:343336
astrocytosis J:242257
brain inflammation J:242257
brain vacuoles J:242257
decreased anxiety-related response J:242257, J:343336
decreased brain enzyme/coenzyme level J:242257
decreased miniature excitatory postsynaptic current amplitude J:343336
decreased miniature excitatory postsynaptic current frequency J:343336
decreased miniature inhibitory postsynaptic current amplitude J:343336
decreased miniature inhibitory postsynaptic current frequency J:343336
decreased mitochondria enzyme/coenzyme activity J:242257
distended urinary bladder J:242257
enlarged liver J:343336
hyperactivity J:242257, J:343336
impaired autophagy J:343336
impaired coordination J:242257
impaired spatial learning J:242257
increased endoplasmic reticulum stress J:242257
increased ganglioside level J:242257, J:343336
ischuria J:242257
liver inflammation J:242257
microgliosis J:242257
neuron degeneration J:242257
Purkinje cell degeneration J:242257
normal skeleton phenotype J:242257
spasticity J:242257
weight loss J:242257
Hgsnattm1a(EUCOMM)Wtsi/Hgsnattm1a(EUCOMM)Wtsi
involves: C57BL/6N * C57BL/6NTac 		abnormal brain enzyme/coenzyme activity J:235361
abnormal bronchus epithelium morphology J:235361
abnormal cerebral cortex morphology J:235361
abnormal CNS glial cell morphology J:235361
abnormal glycosaminoglycan level J:235361
abnormal hepatocyte morphology J:235361
abnormal Kupffer cell morphology J:235361
abnormal liver enzyme/coenzyme activity J:235361
abnormal lysosome morphology J:235361
abnormal mitochondrial crista morphology J:235361
abnormal nervous system morphology J:235361
abnormal proximal convoluted tubule morphology J:235361
abnormal Purkinje cell mitochondrial morphology J:235361
abnormal Purkinje cell morphology J:235361
abnormal ventricle myocardium morphology J:235361
astrocytosis J:235361
decreased locomotor activity J:235361
enlarged liver J:235361
enlarged spleen J:235361
increased anxiety-related response J:235361
increased blood urea nitrogen level J:235361
increased circulating alanine transaminase level J:235361
increased liver weight J:235361
increased spleen weight J:235361
microgliosis J:235361
premature death J:235361
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
05/19/2026
MGI 6.24 		The Jackson Laboratory