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| Nomenclature |
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Symbol:
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Agatm1Vk
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Name:
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aspartylglucosaminidase;
targeted mutation 1, Vesa Kaartinen
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MGI ID: |
MGI:1861793 |
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Synonyms: |
Aga-, AGU |
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Gene:
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Aga
Location:
Chr8:53511702-53523421 bp, + strand
Genetic Position: Chr8,
29.13 cM, cytoband B3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:37022
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: A neomycin selection cassette was inserted into the coding sequences in exon 3. Northern blot analysis and RT-PCR demonstrated that no detectable transcript is produced from this allele. Enzyme activity assays on liver and brain extracts of homozygous mice confirmed that no functional protein is made from this allele. (J:37022)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:37022
Kaartinen V et al.,
"A mouse model for the human lysosomal disease aspartylglycosaminuria."
Nat Med 1996 Dec;2(12):1375-8
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All: |
5 reference(s)
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Analysis Tools
