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Targeted Allele Detail
Symbol: Hmbstm3Uam
Name: hydroxymethylbilane synthase; targeted mutation 3, Urs A Meyer
MGI ID: MGI:2182347
Synonyms: pbgdtm2(neo)Uam, T2
Gene: Hmbs  Location: Chr9:44336350-44344228 bp, - strand  Genetic Position: Chr9, 24.84 cM
Germline Transmission:  Earliest citation of germline transmission: J:31572
Parent Cell Line:  BL/6-III (ES Cell)
Strain of Origin:  C57BL/6J
Allele Type:    Targeted (Hypomorph)
Mutation:    Insertion
Mutation detailsA 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. (J:31572)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Hmbs Mutation:  3 strains or lines available
Original:  J:31572 Lindberg RL, et al., Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nat Genet. 1996 Feb;12(2):195-9
All:  4 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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