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Dnajc24m1Jkn
Chemically induced Allele Detail
Summary
Symbol: Dnajc24m1Jkn
Name: DnaJ heat shock protein family (Hsp40) member C24; mutation 1, Ian J Jackson
MGI ID: MGI:3809863
Synonyms: DPH4 mutant
Gene: Dnajc24  Location: Chr2:105797054-105833894 bp, - strand  Genetic Position: Chr2, 55.46 cM, cytoband E3
Alliance: Dnajc24m1Jkn page
Mutation
origin
Strain of Origin:  BALB/c
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Nucleotide substitutions
 
Mutation detailsENU mutagenesis generated a T to A transversion at the splice donor site of intron 4 of the gene locus. This tranversion causes skipping of exon 4 during transcription leading to an in-frame deletion of 23 amino acids. This mRNA transcript is unstable and no protein is produced as determined by immunoblotting on E12.5 homozygote embryos. (J:139665)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
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 Dnajc24 Mutation:  25 strains or lines available
References
Original:  J:139665 Webb TR, et al., Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development. J Cell Sci. 2008 Oct 1;121(Pt 19):3140-5
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
11/12/2024
MGI 6.24
The Jackson Laboratory