Mice homozygous for the Arsbm1J mutation provide a model for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), having a combination of delayed muscle and nerve degeneration along with a skeletal phenotype consisting of a shortened snout, wide-set eyes and shortened limbs that becomes more noticeable with age.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Chemically induced (ENU) (Hypomorph) | Arsb | arylsulfatase B |
Mice homozygous for the Arsbm1J mutation have a combination of delayed muscle and nerve degeneration, which destabilizes their gaits as they age. Homozygotes also have a skeletal phenotype consisting of a shortened snout, shortened skull length, shortened maxilla, wide-set eyes, thicker than normal tail, and shortened limbs that becomes more noticeable with age. ABR analysis shows severe hearing loss in these homozygotes. Mutants can be poor breeders yielding small litters. Of 10 litters the average number of pups was 3.9. This mutant proides a model for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).
Allele Name | mutation 1, Jackson |
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Allele Type | Chemically induced (ENU) (Hypomorph) |
Allele Synonym(s) | |
Gene Symbol and Name | Arsb, arylsulfatase B |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 13 |
Molecular Note | This ENU induced mutation was identified at The Jackson Laboratory. The mutation is a G-to-T change at residue 93,790,102 (GRCm38) in exon 2 which changes glutamic acid codon 127 to a stop codon (p.E127*), leading to truncation of the encoded protein and reduced activity. |
When using the C57BL/6J-Arsbm1J/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #005598 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous and wildtype for Arsb<m1J> |
Frozen Mouse Embryo | C57BL/6J-Arsb<m1J>/GrsrJ | $2595.00 |
Frozen Mouse Embryo | C57BL/6J-Arsb<m1J>/GrsrJ | $2595.00 |
Frozen Mouse Embryo | C57BL/6J-Arsb<m1J>/GrsrJ | $3373.50 |
Frozen Mouse Embryo | C57BL/6J-Arsb<m1J>/GrsrJ | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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