C.Cg-Fech^m1Pas/J

Stock number: 002662
Product name: ferrochelatase deficiency
Research areas: Cancer Research, Dermatology Research, Hematological Research, Internal/Organ Research, Mouse/Human Gene Homologs, Research Tools

Description

These mice carry an ENU-induced mutation characterized by hepatomegaly, splenomegaly and progressive anemia.

Detailed description

Homozygous mutants are recognizable by the intense yellow color of their sera, gross bilirubinemia, and, especially in albino mice, jaundice. Photosensitivity is evidenced by the appearance of inflammatory skin lesions, often becoming ulcerous, under standard mouseroom conditions (fluorescent light). Mutants do not differ from their normal littermates in body size or weight, nor are they retarded in growth. They exhibit hepatomegaly and splenomegaly, leading to enlarged abdomens after several months of age. Although mutants are not anemic at one month old, normocytic anemia develops with age.

Development

This mutation in the Fech locus was recovered during inbreeding in an ENU mutagenesis experiment in which males from an inbred strain carrying eight recessive mutations were injected with 250 mg/kg of ethylnitrosourea. Mutagenized males were mated with both 129/Sv and BALB/c and then maintained by brotherxsister mating. Mice were later backcrossed to BALB/cJ for at least 5 generations. Mice were transferred from the laboratory of Dr. Xavier Montagutelli (Institut Pasteur) to The Jackson Laboratory in 1996. The mutation was determined to be a T-to-A transversion at position 293, resulting in a methionine to lysine substitution at position 98 (M98K) of the encoded protein.

Allele

Symbol: Fech^m1Pas
Name: ferrochelatase deficiency, mutation 1, Institut Pasteur
MGI accession ID: MGI:1858114
Generation method: Chemically induced (ENU)
Synonyms: fch
Marker symbol: Fech
Marker name: ferrochelatase
Marker synonyms: EPP; EPP1; FCE; fch; Fcl
Chromosome: 18
Strain of origin: 129/Sv x BALB/c
Molecular note: This mutation is a T-to-A transversion at position 293, resulting in a methionine to lysine substitution at position 98 of the encoded protein.