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Allele : Gusb<tm1Sly> glucuronidase, beta; targeted mutation 1, William S Sly

Primary Identifier  MGI:2451059 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 glutamic acid to alanine substitution at residue 536 (E536A) of exon 10. This mutation corresponds to E540A, an active-site nucleophile replacement mutation found in human GUS deficiency.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Gus<tm(E536A)Sly>,
  • Gus<tm(E536A)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

5 Publication categories

Trail: Allele