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Allele : Hmbs<tm3Uam> hydroxymethylbilane synthase; targeted mutation 3, Urs A Meyer

Primary Identifier  MGI:2182347 Allele Type  Targeted
Attribute String  Hypomorph Gene  Hmbs
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  A promoterless neomycin selection cassette with a splice acceptor site in front of the coding region was inserted into intron 1. The construct was designed to generate a hypomorphic allele, in which the transgenic splice acceptor site competes with an endogenous splice acceptor site in exon 3. Hepatic enzymatic activity, the conversion of porphobilinogen to uroporphyrin, was reduced by 43.4% in heterozygous mutant mice.
  • mutations:
  • Insertion
  • synonyms:
  • pbgd<tm2(neo)Uam>,
  • pbgd<tm2(neo)Uam>,
  • T2,
  • T2
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

11 Publication categories