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Dnajc11spc
Chemically induced Allele Detail
Summary
Symbol: Dnajc11spc
Name: DnaJ heat shock protein family (Hsp40) member C11; spastic
MGI ID: MGI:5707591
Synonyms: Dnajc11m1Edou
Gene: Dnajc11  Location: Chr4:152018177-152066416 bp, + strand  Genetic Position: Chr4, 82.77 cM
Alliance: Dnajc11spc page
Mutation
origin
Strain of Origin:  C57BL/6J x 129S6/SvEvTac
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a T to A point mutation in the splice acceptor site of intron 14 that results in the incorporation of 109 bp intronic sequence into the mature transcript and a premature termination codon. (J:221543)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Dnajc11 Mutation:  57 strains or lines available
References
Original:  J:221543 Ioakeimidis F, et al., A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice. PLoS One. 2014;9(8):e104237
All:  1 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
04/16/2024
MGI 6.23
The Jackson Laboratory