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Targeted Allele Detail
Symbol: Arsbtm1Cptr
Name: arylsulfatase B; targeted mutation 1, Christoph Peters
MGI ID: MGI:2180365
Synonyms: As1-s-
Gene: Arsb  Location: Chr13:93771679-93943016 bp, + strand  Genetic Position: Chr13, 47.88 cM
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 detailsThe 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)
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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:  10 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:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.04
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