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| Nomenclature |
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Symbol:
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Mfn1tm1Dcc
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Name:
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mitofusin 1;
targeted mutation 1, David C Chan
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MGI ID: |
MGI:2450304 |
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Synonyms: |
Mfn1 |
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Gene:
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Mfn1
Location:
Chr3:32529465-32579239 bp, + strand
Genetic Position: Chr3,
15.75 cM, cytoband B
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:81438
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S/SvEv
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 3 of the endogenous allele was disrupted by the insertion of a neomycin selection cassette via homologous recombination. The deleted region encoded the G1 and G2 motifs of the GTPase domain. The insertion introduced a translational stop codon into the 5' region of exon 3. Protein was undetected by Western blot analysis of homozygous mutant embryos. (J:81438)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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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 Mfn1 Mutation:
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9 strains or lines available |
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| References |
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Original: |
J:81438
Chen H et al.,
"Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development."
J Cell Biol 2003 Jan 21;160(2):189-200
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All: |
6 reference(s)
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