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| Nomenclature |
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Symbol:
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Naglutm1Efn
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Name:
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alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB);
targeted mutation 1, Elizabeth F Neufeld
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MGI ID: |
MGI:1934018 |
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Synonyms: |
MPS IIIB, Naglu- |
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Gene:
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Naglu
Location:
Chr11:101070012-101077672 bp, + strand
Genetic Position: Chr11,
64.15 cM
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Abnormal inclusions in tissues of Naglutm1Efn/Naglutm1Efn mice
Show the 6 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:58950
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Parent Cell Line:
| CCE/EK.CCE (ES Cell) |
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Strain of Origin:
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129S/SvEv-Gpi1c
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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: Exon 6 of this gene, a region known to harbor several Sanfilippo B mutations, was disrupted by the insertion of a neomycin resistance gene via homologous recombination. Protein from homozygous mutant animals was negative for enzyme activity. (J:58950)
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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:58950
Li HH et al.,
"Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase."
Proc Natl Acad Sci U S A 1999 Dec 7;96(25):14505-10
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All: |
21 reference(s)
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Analysis Tools
