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Targeted Allele Detail
Symbol: Hmbstm2Uam
Name: hydroxymethylbilane synthase; targeted mutation 2, Urs A Meyer
MGI ID: MGI:2182346
Synonyms: pbgdtm1(neo)Uam, T1
Gene: Hmbs  Location: Chr9:44247645-44255525 bp, - strand  Genetic Position: Chr9, 24.84 cM
Alliance: Hmbstm2Uam page
Germline Transmission:  Earliest citation of germline transmission: J:31572
Parent Cell Line:  BL/6-III (ES Cell)
Strain of Origin:  C57BL/6
Allele Type:    Targeted
Mutation:    Insertion
Mutation detailsThe 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). (J:31572)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
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:  16 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:  9 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory