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Hmbstm2Uam
Targeted Allele Detail
Nomenclature
Symbol: Hmbstm2Uam
Name: hydroxymethylbilane synthase; targeted mutation 2, Urs A Meyer
MGI ID: MGI:2182346
Synonyms: pbgdtm1(neo)Uam, T1
Gene: Hmbs  Location: Chr9:44336350-44344228 bp, - strand  Genetic Position: Chr9, 24.84 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:31572
Parent Cell Line:  BL/6-III (ES Cell)
Strain of Origin:  C57BL/6J
Mutation
description
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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  2 strains or lines available
References
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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last database update
01/13/2015
MGI 5.21
The Jackson Laboratory