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Allele : Gba1<tm1Ggb> glucosylceramidase beta 1; targeted mutation 1, Gregory A Grabowski

Primary Identifier  MGI:2680317 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 an A-to-G point mutation was created at position 1249 (GenBank M24119) in exon 9 causing an N-to-S amino acid substitution at residue 388 (370 in mature protein) (p.N388S). The neo cassette was then removed through subsequent Cre-mediated recombination.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • N370S,
  • N370S
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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

6 Publication categories

Trail: Allele