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Naglutm1Efn
Targeted Allele Detail
Nomenclature
Symbol: Naglutm1Efn
Name: alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB); targeted mutation 1, Elizabeth F Neufeld
MGI ID: MGI:1934018
Synonyms: MPS IIIB, Naglu-
Gene: Naglu  Location: Chr11:101070090-101077672 bp, + strand  Genetic Position: Chr11, 64.15 cM
Abnormal inclusions in tissues of Naglutm1Efn/Naglutm1Efn mice

Show the 6 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:58950
Parent Cell Line:  CCE/EK.CCE (ES Cell)
Strain of Origin:  129S/SvEv-Gpi1c
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 30 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Naglu Mutation:  22 strains or lines available
References
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
All:  32 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/19/2020
MGI 6.15
The Jackson Laboratory