Hmbstm3Uam
Targeted Allele Detail
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Symbol: |
Hmbstm3Uam |
Name: |
hydroxymethylbilane synthase; targeted mutation 3, Urs A Meyer |
MGI ID: |
MGI:2182347 |
Synonyms: |
pbgdtm2(neo)Uam, T2 |
Gene: |
Hmbs Location: Chr9:44247645-44255525 bp, - strand Genetic Position: Chr9, 24.84 cM
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Alliance: |
Hmbstm3Uam page
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Germline Transmission: |
Earliest citation of germline transmission:
J:31572
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Parent Cell Line: |
BL/6-III (ES Cell)
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Strain of Origin: |
C57BL/6
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Allele Type: |
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Targeted (Hypomorph) |
Mutation: |
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Insertion
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Hmbs Mutation: |
25 strains or lines available
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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) |
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