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Targeted Allele Detail
Symbol: Fahtm1Mgo
Name: fumarylacetoacetate hydrolase; targeted mutation 1, Markus Grompe
MGI ID: MGI:2429529
Synonyms: Fah-, Fahdeltaexon5-1
Gene: Fah  Location: Chr7:84585159-84606722 bp, - strand  Genetic Position: Chr7, 48.36 cM
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 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:16046
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt+
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsExon 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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
Carrying any Fah Mutation:  19 strains or lines available
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
All:  27 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory