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| Nomenclature |
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Symbol:
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Hmbstm3Uam
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Name:
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hydroxymethylbilane synthase;
targeted mutation 3, Urs A Meyer
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MGI ID: |
MGI:2182347 |
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Synonyms: |
T2 |
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Gene:
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Hmbs
Location:
Chr9:44336350-44344228 bp, - strand
Genetic Position: Chr9,
24.84 cM
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Mutation
origin |
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Germline Transmission:
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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:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Targeted (other) |
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Mutation: | |
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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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Hmbs Mutation:
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2 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
