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Fechm1Pas
Chemically induced Allele Detail
Summary
Symbol: Fechm1Pas
Name: ferrochelatase; ferrochelatase deficiency, mutation 1, Institut Pasteur
MGI ID: MGI:1858114
Synonyms: fch
Gene: Fech  Location: Chr18:64589613-64622169 bp, - strand  Genetic Position: Chr18, 37.43 cM
Alliance: Fechm1Pas page
Mutation
origin
Strain of Origin:  129/Sv x BALB/c
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis mutation is a T-to-A transversion at position 293, resulting in a methionine to lysine substitution at position 98 of the encoded protein. (J:12757)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 6 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Fechm1Pas
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 Fech Mutation:  24 strains or lines available
References
Original:  J:2021 Tutois S, et al., Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease. J Clin Invest. 1991 Nov;88(5):1730-6
All:  21 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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory