Hmbs^tm3Uam
Targeted Allele Detail

Summary

• Symbol: Hmbs^tm3Uam
• Name: hydroxymethylbilane synthase; targeted mutation 3, Urs A Meyer
• MGI ID: MGI:2182347
• Synonyms: pbgd^tm2(neo)Uam, T2
• Gene: Hmbs Location: Chr9:44247645-44255525 bp, - strand Genetic Position: Chr9, 24.84 cM
• Alliance: Hmbs^tm3Uam page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:31572
• Parent Cell Line: BL/6-III (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Insertion
• Mutation details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

4 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: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: 8 reference(s)