Phenotypes associated with this allele

• Allele Symbol: Gns^{tm1e(EUCOMM)Hmgu}
• Allele Name: targeted mutation 1e, Helmholtz Zentrum Muenchen GmbH
• Allele ID: MGI:4881048
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gns^tm1e(EUCOMM)Hmgu/Gns^tm1e(EUCOMM)Hmgu	C57BL/6N-A^tm1Brd Gns^tm1e(EUCOMM)Hmgu	MGI:6105949

Genotype
MGI:6105949

hm1

• Allelic Composition: Gns^{tm1e(EUCOMM)Hmgu}/Gns^{tm1e(EUCOMM)Hmgu}
• Genetic Background: C57BL/6N-A^tm1Brd Gns^{tm1e(EUCOMM)Hmgu}
• Cell Lines: HEPD0697_8_B06

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

decreased locomotor activity ( J:242250 )

• in open field test

• less distance travelled

• more resting time

• less rearing on hindlimbs

cellular

abnormal lysosome physiology ( J:242250 )

• lysosomal distension in liver, heart, lung, kidney and urinary bladder

• several-fold increase in GAG (glycosaminoglycan) content in liver, kidney and spleen

hematopoietic system

microgliosis ( J:242250 )

• in the frontal, parietal and occipital cortices of the encephalon, and the superior colliculus and thalamus at 2 months

immune system

microgliosis ( J:242250 )

• in the frontal, parietal and occipital cortices of the encephalon, and the superior colliculus and thalamus at 2 months

mortality/aging

premature death ( J:242250 )

• median survival of 16.3 months

nervous system

microgliosis ( J:242250 )

• in the frontal, parietal and occipital cortices of the encephalon, and the superior colliculus and thalamus at 2 months

astrocytosis ( J:242250 )

• in the frontal, parietal and occipital cortices of the encephalon, and the superior colliculus and thalamus at 2 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis III		DOID:12801	OMIM:252940	J:242250