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Allele : Gba1<tm2.1Eginn> glucosylceramidase beta 1; targeted mutation 2.1, Edward I Ginns

Primary Identifier  MGI:5587918 Allele Type  Targeted
Attribute String  Hypomorph Gene  Gba1
Transmission  Germline Strain of Origin  129X1/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  A point mutation resulted in R463C substitution was introduced by PCR mutagenesis. Cre mediated recombination removed loxP-flanked neomycin cassette between metaxin and glucocerebrosidase, leaving only a 34 bp loxP sequence. Gba activity decreased to approximately 35% of the enzyme activity in normal mice.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • R463C,
  • R463C
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele