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

Symbol: Arsbtm1Cptr 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: Arsbtm1Cptr page

Skeletal abnormalities of the Arsbtm1Cptr/Arsbtm1Cptr mouse Show the 3 phenotype image(s) involving this allele.

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

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)

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

In Structures Affected by this Mutation:

21 anatomical structure(s)

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

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)