B6;129S2-Arsgtm1Tdi/Ieg
| Status | Available to order |
| EMMA ID | EM:13608 |
| International strain name | B6;129S2-Arsgtm1Tdi/Ieg |
| Alternative name | Arsgtm1Tdi |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Arsgtm1Tdi, |
| 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 |
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| 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 |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Usher syndrome type 3 / Orphanet_231183
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