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

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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)