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| Nomenclature |
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Symbol:
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Surf1tm1Zev
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Name:
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surfeit gene 1;
targeted mutation 1, Massimo Zeviani
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MGI ID: |
MGI:2450930 |
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Synonyms: |
Surf1-/- |
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Gene:
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Surf1
Location:
Chr2:26913383-26916530 bp, - strand
Genetic Position: Chr2,
19.1 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:81773
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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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: Exons 5, 6, and 7 were replaced with a neomycin selection cassette inserted by homologous recombination. Normal transcript was undetected by RT-PCR analysis of mRNA obtained from homozygous mutant embryos. Western blot analysis of mitochondrial extracts obtained from cultured homozygous mutant fibroblasts indicated an absence of protein. (J:81773)
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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 Surf1 Mutation:
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2 strains or lines available |
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| References |
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Original: |
J:81773
Agostino A et al.,
"Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice."
Hum Mol Genet 2003 Feb 15;12(4):399-413
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All: |
2 reference(s)
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Analysis Tools
