C57BL/6J-Arsb^m1J/GrsrJ

Stock number: 005598
Research areas: Developmental Biology Research, Metabolism Research, Sensorineural Research

Description

Mice homozygous for the Arsb^m1J 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.

Detailed description

Mice homozygous for the Arsb^m1J 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

Symbol: Arsb^m1J
Name: mutation 1, Jackson
MGI accession ID: MGI:3800577
Generation method: Chemically induced (ENU)
Attributes: Hypomorph
Marker symbol: Arsb
Marker name: arylsulfatase B
Chromosome: 13
Strain of origin: C57BL/6J
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.