Hmbs^tm1Uam
Targeted Allele Detail

Summary

• Symbol: Hmbs^tm1Uam
• Name: hydroxymethylbilane synthase; targeted mutation 1, Urs A Meyer
• MGI ID: MGI:2182340
• Synonyms: T3
• Gene: Hmbs Location: Chr9:44247645-44255525 bp, - strand Genetic Position: Chr9, 24.84 cM
• Alliance: Hmbs^tm1Uam 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 (Null/knockout)
• Mutation: Insertion
• Mutation details: A promoterless neomycin selection cassette was inserted into exon 3, which is common to all isoforms. Hepatic enzymatic activity, the conversion of porphobilinogen to uroporphyrin, was reduced by approximately 50% in heterozygous mice. (J:31572)

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: 2 reference(s)