Hmbs^tm2Uam
Targeted Allele Detail

Summary

• Symbol: Hmbs^tm2Uam
• Name: hydroxymethylbilane synthase; targeted mutation 2, Urs A Meyer
• MGI ID: MGI:2182346
• Synonyms: pbgd^tm1(neo)Uam, T1
• Gene: Hmbs Location: Chr9:44247645-44255525 bp, - strand Genetic Position: Chr9, 24.84 cM
• Alliance: Hmbs^tm2Uam 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
• Mutation: Insertion
• Mutation details: The 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)

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: 9 reference(s)