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Chemically induced Allele Detail
Symbol: Fah1R
Name: fumarylacetoacetate hydrolase; mutation 1, Oak Ridge
MGI ID: MGI:2155424
Synonyms: Fah5961SB, Fah5981SB, Fah5981SB
Gene: Fah  Location: Chr7:84585159-84606722 bp, - strand  Genetic Position: Chr7, 48.36 cM
Strain of Origin:  BALB/cRl
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThe mutation is a G-to-A transition at the last base of exon 7 leading to the splicing of exon 6 to exon 8, and resulting in a transcript that lacks exon 7. The absence of exon 7 in the transcript results in a frameshift and subsequently the introduction of a premature stop codon at amino acid position 303. (J:67045, J:101682)
Inheritance:    Recessive
View phenotypes 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: 2 strains available      Cell Lines: 0 lines available
Carrying any Fah Mutation:  4 strains or lines available
Original:  J:54592 Rinchik EM, et al., N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations. Genetics. 1999 May;152(1):373-83
All:  5 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 6.0
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