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| Nomenclature |
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Symbol:
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Fah1R
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Name:
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fumarylacetoacetate hydrolase;
mutation 1, Oak Ridge
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MGI ID: |
MGI:2155424 |
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Synonyms: |
Fah5961SB |
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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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Mutation
origin |
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Strain of Origin:
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BALB/cRl
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: The 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)
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Inheritance: | |
Recessive |
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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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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
