Gba-D427V

Nomenclature

C57BL/6Smoc-Gbaem1(D427v)Smoc

Cat. NO.

NM-KI-18060

Strain State

Repository Live

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Gene Summary

Gene Symbol

Synonyms

GC， GBA1， GLUC， GCase， betaGC

NCBI ID

14466

MGI ID

95665

Ensembl ID

ENSMUSG00000028048

Pubmed

Human Ortholog

GBA

Model Description

The D427V point mutation is located in exon9 of mouse Gba gene. This Gba point mutation mouse model was established by introduce an A>T transversion at the 119th nucleotide of exon9.

Validation Data

image.png

Fig.1 Detection of Gba1 expression in the subcutaneous fat pad by RT-PCR. 

Wild type and Homozygous: one band at 342 bp with primers F1/R1(mGba1) and one band at 123 bp with primers F2/R2(mGapdh).

Abbr. M, DNA marker; HO, homozygous; WT, wild type.

image.png

Fig.2 mRNA sequencing of Gba-D427V mice. Sequencing data of RT-PCR products confirmed the presence of mutations in Gba-D427V mice. 

Abbr. HO, homozygous; WT, wild type.

image.png

Fig.3 Detection of Glucosylceramidase expression in 22-week-old female Gba-D427V mice (n=3 or 5) by ELISA (Abcam, #ab273339).

Abbr.  HO, homozygous; WT, wild type.

Note. μU/mg=pmol/min/mg.

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