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Allele : Tg(CST3*L68Q)#Efl transgene insertion, Efrat Levy

Primary Identifier  MGI:6273895 Allele Type  Transgenic
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Tg(CST3*L68Q)#Efl
Strain of Origin  Swiss Webster Is Recombinase  false
Is Wild Type  false
molecularNote  An 8.9 kb genomic fragment containing the human gene was micro-injected into single-cell embryos. This version of the gene contains a T>A mutation causing a p.Leu68Gln substitution in the encoded peptide. This mutation is found in patients suffering from hereditary cerebral hemorrhage with amyloidosis, Icelandic type (HCHWA-I).
  • mutations:
  • Insertion
  • synonyms:
  • CysC-V,
  • CysC-V
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1 Feature

Genome

1 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories