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| Nomenclature |
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Symbol:
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Fahtm1Mgo
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Name:
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fumarylacetoacetate hydrolase;
targeted mutation 1, Markus Grompe
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MGI ID: |
MGI:2429529 |
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Synonyms: |
Fah-, Fahdeltaexon5-1 |
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Gene:
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Fah
Location:
Chr7:84585159-84606722 bp, - strand
Genetic Position: Chr7,
48.36 cM
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Liver disease in Fahtm1Mgo/Fahtm1Mgo mice and liver histology of Fahtm1Mgo/Fahtm1Mgo Hgdaku/Hgdaku and Fahtm1Mgo/Fahtm1Mgo Hgdaku/Hgd+ mice after treatment with the drug NTCB
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:16046
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: Exon 5 was disrupted by the insertion of a neomycin selection cassette. A biochemical assay of liver tissue showed fumarylacetoacetate hydrolase activity to be reduced by approximately 50% in heterozygous mice and completely ablated in homozygous mutant mice. (J:16046)
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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 Fah Mutation:
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4 strains or lines available |
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| References |
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Original: |
J:16046
Grompe M et al.,
"Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice."
Genes Dev 1993 Dec;7(12A):2298-307
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All: |
19 reference(s)
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Analysis Tools
