|Institutional Source||Beutler Lab|
|Gene Name||alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R9145 (G1)|
|Chromosomal Location||101070012-101077672 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 101071114 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Histidine at position 138 (Y138H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001802 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001802]|
AA Change: Y138H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y138H
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced open field activity, massive accumulation of heparan sulfate in kidney and liver, elevated gangliosides in brain, and presence of vacuoles in macrophages, epithelial cells, and neurons. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Naglu||
(F):5'- CCGAGGTGGATTTGGAATGAGC -3'
(R):5'- ACTTTGTCCCACCCTGGAAG -3'
(F):5'- TGGATTTGGAATGAGCAGGAG -3'
(R):5'- TGGAAGGCCTCGGTTTCC -3'