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Allele : Gba1<tm2Ggb> glucosylceramidase beta 1; targeted mutation 2, Gregory A Grabowski

Primary Identifier  MGI:2680322 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Gba1
Transmission  Germline Strain of Origin  129S5/SvEvBrd
Is Recombinase  false Is Wild Type  false
molecularNote  A loxP site flanked neomycin resistance gene was inserted into intron 8 and a G-to-C point mutation was created at position 1320 (GenBank M24119) in exon 9 causing a V-to-L amino acid substitution at residue 412 (394 in mature protein) (p.V412L). The neo cassette was then removed through subsequent Cre-mediated recombination.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • V394L,
  • V394L
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

21 Publication categories

Trail: Allele