B6;129S2-Arsg^tm1Tdi/Ieg

Status	Available to order
EMMA ID	EM:13608
Citation information	RRID:IMSR_EM:13608 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	B6;129S2-Arsg^tm1Tdi/Ieg
Alternative name	Arsgtm1Tdi
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Arsg^tm1Tdi
Gene/Transgene symbol	Arsg

Information from provider

Provider	Torben Lübke
Provider affiliation	Biochemie, Chemistry, Bielefeld University
Genetic information	Arsg (arylsulfatase G) is a protein coding gene. Diseases associated with Arsg include Usher Syndrome, Type IV and Usher Syndrome, Type IIIa. Among its related pathways are Metabolism of proteins and Metabolism. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and arylsulfatase activity. An important paralog of this gene is Arsa. Mutation details: Exon 2 was disrupted by insertion of a neo cassette. RT-PCR confirmed the absence of mRNA expression in homozygous mice.
Phenotypic information	Homozygous: Lysosomal storage and cellular alterations in the CNS of Arsg deficient mice; Arsg deficient mice accumulate heparan sulfate in visceral organs and the central nervous system and develop neuronal cell death and behavioral deficits demonstrating a critical role of Args in heparan sulfate degradation. Args deficiency represents a form of mucopolysaccharidosis, termed MPS IIIE. Heterozygous: No phenotype of heterozygous mice
Breeding history	Generated in 129 derived ES cells and backcrossed to C57BL/6JRccHsd
References	Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice.;Kowalewski Björn, Lamanna William C, Lawrence Roger, Damme Markus, Stroobants Stijn, Padva Michael, Kalus Ina, Frese Marc-André, Lübke Torben, Lüllmann-Rauch Renate, D'Hooge Rudi, Esko Jeffrey D, Dierks Thomas, ;2012;Proceedings of the National Academy of Sciences of the United States of America;109;10310-5; 22689975 Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).;Kowalewski Björn, Heimann Peter, Ortkras Theresa, Lüllmann-Rauch Renate, Sawada Tomo, Walkley Steven U, Dierks Thomas, Damme Markus, ;2015;Human molecular genetics;24;1856-68; 25452429 Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice.;Kruszewski Katharina, Lüllmann-Rauch Renate, Dierks Thomas, Bartsch Udo, Damme Markus, ;2016;Investigative ophthalmology & visual science;57;1120-31; 26975023
Homozygous fertile	yes
Homozygous viable	yes
Homozygous matings required	yes
Immunocompromised	no

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archiving	homozygous C57BL/6J males

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Usher syndrome type 3 / Orphanet_231183

MGI phenotypes (gene matching)

abnormal microglial cell morphology / MGI
abnormal hepatocyte morphology / MGI
abnormal Purkinje cell morphology / MGI
decreased Purkinje cell number / MGI
decreased exploration in new environment / MGI
abnormal spatial learning / MGI
abnormal learning/memory/conditioning / MGI
abnormal kidney morphology / MGI
abnormal macrophage morphology / MGI
abnormal neuron morphology / MGI
astrocytosis / MGI
impaired passive avoidance behavior / MGI
abnormal kidney epithelium morphology / MGI
lysosomal protein accumulation / MGI
abnormal perivascular macrophage morphology / MGI
microgliosis / MGI
abnormal liver sinusoid morphology / MGI
abnormal hippocampus neuron morphology / MGI
abnormal thalamus neuron morphology / MGI
abnormal glycosaminoglycan level / MGI

Literature references

Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice.;Kowalewski Björn, Lamanna William C, Lawrence Roger, Damme Markus, Stroobants Stijn, Padva Michael, Kalus Ina, Frese Marc-André, Lübke Torben, Lüllmann-Rauch Renate, D'Hooge Rudi, Esko Jeffrey D, Dierks Thomas, ;2012;Proceedings of the National Academy of Sciences of the United States of America;109;10310-5; 22689975
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).;Kowalewski Björn, Heimann Peter, Ortkras Theresa, Lüllmann-Rauch Renate, Sawada Tomo, Walkley Steven U, Dierks Thomas, Damme Markus, ;2015;Human molecular genetics;24;1856-68; 25452429
Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice.;Kruszewski Katharina, Lüllmann-Rauch Renate, Dierks Thomas, Bartsch Udo, Damme Markus, ;2016;Investigative ophthalmology & visual science;57;1120-31; 26975023

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Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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B6;129S2-Arsgtm1Tdi/Ieg