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| Nomenclature |
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Symbol:
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Fechm1Pas
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Name:
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ferrochelatase;
ferrochelatase deficiency, mutation 1, Institut Pasteur
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MGI ID: |
MGI:1858114 |
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Synonyms: |
fch |
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Gene:
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Fech
Location:
Chr18:64456550-64489066 bp, - strand
Genetic Position: Chr18,
37.43 cM
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Mutation
origin |
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Strain of Origin:
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129/Sv x BALB/c
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: 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. (J:12757)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
14 reference(s)
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Analysis Tools
