Arsb^tm1Cptr
Targeted Allele Detail

Summary

• Symbol: Arsb^tm1Cptr
• Name: arylsulfatase B; targeted mutation 1, Christoph Peters
• MGI ID: MGI:2180365
• Synonyms: As1-s-
• Gene: Arsb Location: Chr13:93908187-94079524 bp, + strand Genetic Position: Chr13, 47.88 cM
• Alliance: Arsb^tm1Cptr page

Skeletal abnormalities of the Arsb^tm1Cptr/Arsb^tm1Cptr mouse

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:34831
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: The insertion of a neomycin selection cassette into exon 5 introduced a translational stop codon that results in the truncation of the protein after 82 residues. Northern blot analysis of total RNA isolated from the kidneys and livers of homozygous mutant mice revealed an absence of message. Enzymatic activity was assayed and found to be ablated in kidney, liver, spleen, and brain homogenates. (J:34831)

Disease models

Expression

In Structures Affected by this Mutation:

21 anatomical structure(s)

Find Mice (IMSR)

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

References

• Original: J:34831 Evers M, et al., Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI. Proc Natl Acad Sci U S A. 1996 Aug 6;93(16):8214-9
• All: 3 reference(s)