Arsb^m1J
Chemically induced Allele Detail

Summary

• Symbol: Arsb^m1J
• 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: Arsb^m1J page

Arsb^m1J/Arsb^m1J 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 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

Disease models

Expression

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

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: 27 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: 13 reference(s)