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Allele : Hmbs<tm2Uam> hydroxymethylbilane synthase; targeted mutation 2, Urs A Meyer

Primary Identifier  MGI:2182346 Allele Type  Targeted
Gene  Hmbs Transmission  Germline
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  The insertion of a PGK-neo cassette disrupted exon 1, which is specific to isoforms transcribed in non-erythroid cells. RT-PCR analysis showed a lack of transcript containing exon 1, though the expression of a transcript consisting of exon 3 and downstream sequence was identified. The expression of this aberrant transcript was reported to be driven by the PGK promoter and was putatively responsible for the hepatic enzymatic activity determined in homozygous mutant mice (reduced by 44.7% from wild-type).
  • mutations:
  • Insertion
  • synonyms:
  • pbgd<tm1(neo)Uam>,
  • T1,
  • pbgd<tm1(neo)Uam>,
  • T1
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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

12 Publication categories