Arsbtm1Cptr
Targeted Allele Detail
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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
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Alliance: |
Arsbtm1Cptr page
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Skeletal abnormalities of the Arsbtm1Cptr/Arsbtm1Cptr mouse
Show the 3 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:34831
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Parent Cell Line: |
E14.1 (ES Cell)
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Strain of Origin: |
129P2/OlaHsd
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Allele Type: |
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Targeted (Null/knockout) |
Mutation: |
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Insertion
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Arsb Mutation: |
27 strains or lines available
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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) |
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