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Targeted Allele Detail
Symbol: Hmbstm1.1Rjde
Name: hydroxymethylbilane synthase; targeted mutation 1.1, Robert J Desnick
MGI ID: MGI:6393997
Synonyms: R167Q
Gene: Hmbs  Location: Chr9:44247645-44255525 bp, - strand  Genetic Position: Chr9, 24.84 cM
Alliance: Hmbstm1.1Rjde page
Germline Transmission:  Earliest citation of germline transmission: J:275245
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv x C57BL/6
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsA G to A change at position 500 resulting in an arginine to glutamine substitution at amino acid 167 (R167Q) was introduced in exon 10 and a loxP-flanked neomycin cassette was inserted in intron 9. The neomycin selection cassette was removed via cre-mediated recombination. This is a mutation found in human dominant acute intermittent porphyria. (J:275245)
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:275245 Yasuda M, et al., Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. Hum Mol Genet. 2019 Jun 1;28(11):1755-1767
All:  2 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