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Surf1tm1Zev
Targeted Allele Detail
Summary
Symbol: Surf1tm1Zev
Name: surfeit gene 1; targeted mutation 1, Massimo Zeviani
MGI ID: MGI:2450930
Synonyms: Surf1-/-
Gene: Surf1  Location: Chr2:26803393-26806542 bp, - strand  Genetic Position: Chr2, 19.1 cM
Alliance: Surf1tm1Zev page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:81773
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 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)
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: 31 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Surf1 Mutation:  14 strains or lines available
References
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
All:  4 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
12/10/2024
MGI 6.24
The Jackson Laboratory