Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Arsbm1J Name: arylsulfatase B; mutation 1, Jackson MGI ID: MGI:3800577 Gene: Arsb  Location: Chr13:93908187-94079524 bp, + strand  Genetic Position: Chr13, 47.88 cM Alliance: Arsbm1J page

Arsbm1J/Arsbm1J mice (left) exhibit a shortened snout, wide-set eyes and shortened limbs Show the 4 phenotype image(s) involving this allele.

Strain of Origin:

C57BL/6J

Allele Type:    Chemically induced (ENU) (Hypomorph) Mutation:    Single point mutation   Mutation details: 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. (J:149960, J:216268) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Arsb Mutation:	27 strains or lines available

Original:	J:149960 Curtain MM, et al., A mutation in the Arsb gene; a mouse model that resembles Maroteaux_Lamy syndrome. MGI Direct Data Submission. 2009;
All:	12 reference(s)