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Arsbm1J
Chemically induced Allele Detail
Nomenclature
Symbol: Arsbm1J
Name: arylsulfatase B; mutation 1, Jackson
MGI ID: MGI:3800577
Gene: Arsb  Location: Chr13:93771679-93943016 bp, + strand  Genetic Position: Chr13, 47.88 cM
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
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  1 strain or line 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:  7 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)
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last database update
06/30/2020
MGI 6.15
The Jackson Laboratory