Hmbs^tm2.1Rjde
Targeted Allele Detail

Summary

• Symbol: Hmbs^tm2.1Rjde
• Name: hydroxymethylbilane synthase; targeted mutation 2.1, Robert J Desnick
• MGI ID: MGI:6393999
• Synonyms: R173Q
• Gene: Hmbs Location: Chr9:44247645-44255525 bp, - strand Genetic Position: Chr9, 24.84 cM
• Alliance: Hmbs^tm2.1Rjde page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:275245
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv x C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A GC to AG change at position 518-519 resulting in an arginine to glutamine substitution at amino acid 173 (R173Q) 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)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 25 strains or lines available

References

• 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: 1 reference(s)