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| Nomenclature |
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Symbol:
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Fechtm1Dab
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Name:
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ferrochelatase;
targeted mutation 1, David A Brenner
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MGI ID: |
MGI:2384729 |
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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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Germline Transmission:
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Earliest citation of germline transmission:
J:78345
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Parent Cell Line:
| E14TG2a (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Disruption caused by insertion of vector |
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Mutation details: The insertion of a neomycin selection cassette deleted exon 10 while leaving the slice donor and acceptor sites for exons 9 and 11, respectively, intact. RT-PCR and Western blot analysis showed the levels of both mutant transcript and protein to be approximately equivalent to those of normal transcript and protein in heterozygous mice. An assay based on chelation rate showed activity to be reduced by approximately 63% in heterozygous mutant mice. (J:52058, J:78345)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Fech Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:78345
Magness ST et al.,
"An exon 10 deletion in the mouse ferrochelatase gene has a dominant-negative effect and causes mild protoporphyria."
Blood 2002 Aug 15;100(4):1470-7
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All: |
2 reference(s)
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Analysis Tools
