Gba-D427V

系統名

C57BL/6JSmo-Gbaem1(D427v)Smoc

SMOC番号

NM-KI-18060

維持形態

Repository Live

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説明

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.

表現型データ

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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 activity 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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