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Allele : Gusb<tm3Sly> glucuronidase, beta; targeted mutation 3, William S Sly

Primary Identifier  MGI:2451061 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Gusb
Transmission  Germline Strain of Origin  129X1/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  Site directed mutagenesis was used to introduce a leucine to phenylalanine subsitution at residue 175 (L175F) of exon 2. This mutation corresponds to L176F, the most common mutation found in human GUS deficiency.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Gus<tm(L175F)Sly>,
  • Gus<tm(L175F)Sly>
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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