About   Help   FAQ
Arsbm1J
Chemically induced Allele Detail
Summary
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.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsThis 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
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 9 anatomical structures
Find Mice (IMSR)
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:  20 strains or lines available
References
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:  11 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
11/22/2022
MGI 6.22
The Jackson Laboratory