Naglu<tm1Efn> Targeted Allele Detail MGI Mouse (MGI:1934018)

Naglu^tm1Efn
Targeted Allele Detail

Summary

Symbol:	Naglu^tm1Efn
Name:	alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB); targeted mutation 1, Elizabeth F Neufeld
MGI ID:	MGI:1934018
Synonyms:	MPS IIIB, Naglu-
Gene:	Naglu Location: Chr11:100960918-100968483 bp, + strand Genetic Position: Chr11, 64.15 cM
Alliance:	Naglu^tm1Efn page

Abnormal inclusions in tissues of Naglu^tm1Efn/Naglu^tm1Efn 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-Gpi1^c

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutation:		Insertion
		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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	35 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:	41 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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