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Afg3l2Emv66
Allele Detail
Summary
Symbol: Afg3l2Emv66
Name: AFG3-like AAA ATPase 2; endogenous ecotropic MuLV 66
MGI ID: MGI:3775617
Gene: Afg3l2  Location: Chr18:67537834-67582242 bp, - strand  Genetic Position: Chr18, 39.96 cM
Alliance: Afg3l2Emv66 page
Mutation
origin
Strain of Origin:  MEV/2Ty-Afg3l2Emv66
Mutation
description
Allele Type:    Not Applicable (Null/knockout)
Mutation:    Viral insertion
 
Mutation detailsAn ecotropic murine leukemia proviral reinsertion occurred within intron 14 of the gene. RT-PCR analysis on several tissues showed that no transcript containing sequences derived from exon 13-15 is expressed from this allele. An aberrant transcript contaning sequences upstream of the insertion site is detectable. Western blot analysis on tissue mitochondrial preparations shows that the protein product is not detectable in homozygous mice. (J:132285)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Afg3l2 Mutation:  69 strains or lines available
References
Original:  J:132285 Maltecca F, et al., The mitochondrial protease AFG3L2 is essential for axonal development. J Neurosci. 2008 Mar 12;28(11):2827-36
All:  8 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