Fah^tm1Mgo
Targeted Allele Detail

Summary

• Symbol: Fah^tm1Mgo
• Name: fumarylacetoacetate hydrolase; targeted mutation 1, Markus Grompe
• MGI ID: MGI:2429529
• Synonyms: Fah-, Fah^deltaexon5-1, Fah^Dexon5
• Gene: Fah Location: Chr7:84234367-84255150 bp, - strand Genetic Position: Chr7, 48.36 cM
• Alliance: Fah^tm1Mgo page

Liver disease in Fah^tm1Mgo/Fah^tm1Mgo mice and liver histology of Fah^tm1Mgo/Fah^tm1Mgo Hgd^aku/Hgd^aku and Fah^tm1Mgo/Fah^tm1Mgo Hgd^aku/Hgd⁺ mice after treatment with the drug NTCB

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:16046
• Parent Cell Line: AB1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Exon 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)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Fah^tm1Mgo

Find Mice (IMSR)

• 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: 36 strains or lines available

References

• 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: 59 reference(s)