Fah<1R> Chemically induced Allele Detail MGI Mouse (MGI:2155424)

Fah^1R
Chemically induced Allele Detail

Summary

Symbol:	Fah^1R
Name:	fumarylacetoacetate hydrolase; mutation 1, Oak Ridge
MGI ID:	MGI:2155424
Synonyms:	Fah^5961SB, Fah^5981SB, Fah5981SB
Gene:	Fah Location: Chr7:84234367-84255150 bp, - strand Genetic Position: Chr7, 48.36 cM
Alliance:	Fah^1R page

Mutation
origin

Strain of Origin:

BALB/cRl

Mutation
description

Allele Type:		Chemically induced (ENU)
Mutation:		Single point mutation
		Mutation details: The mutation is a G-to-A transition at the last base of VEGA exon OTTMUSE00000329891 leading to the splicing out of this exon, which results in a frameshift and subsequently the introduction of a premature stop codon at amino acid position 303. (J:67045, J:101682)
Inheritance:		Recessive

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

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:	38 strains or lines available

References

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:	11 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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