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| Nomenclature |
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Symbol:
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Agatm1Pltn
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Name:
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aspartylglucosaminidase;
targeted mutation 1, Leena Peltonen
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MGI ID: |
MGI:2156980 |
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Synonyms: |
AGA - |
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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:45587
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A neomycin selection cassette replaced a genomic fragment containing 61 nucleotides of exon 8 and 450 nucleotides of intron 8. Northern blot and RT-PCR analysis demonstrated a larger, mutant transcript was produced from this allele. However, no functional protein could be detected in enzyme activity assays in liver and brain of homozygous mice. (J:45587)
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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:45587
Jalanko A et al.,
"Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients."
Hum Mol Genet 1998 Feb;7(2):265-72
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All: |
3 reference(s)
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Analysis Tools
