Dnajc3^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Dnajc3^m1Btlr
• Name: DnaJ heat shock protein family (Hsp40) member C3; mutation 1, Bruce Beutler
• MGI ID: MGI:6200312
• Synonyms: vanishing
• Gene: Dnajc3 Location: Chr14:119175388-119219109 bp, + strand Genetic Position: Chr14, 62.6 cM
• Alliance: Dnajc3^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to A transversion at base pair 118,972,387 (v38) on chromosome 14, or base pair 34,456 in the GenBank genomic region NC_000080 encoding Dnajc3. The mutation corresponds to residue 1,030 in the mRNA sequence NM_008929 within exon 8 of 12 total exons. The mutation results in substitution of tyrosine 291 for a premature stop codon (Y291*) in the DNAJC3 protein. (J:265248)
• Inheritance: Recessive

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 Dnajc3 Mutation: 25 strains or lines available

References

• Original: J:265248 Turer E, et al., Mutagenetix entry for vanishing. MGI Direct Data Submission. 2018
• All: 1 reference(s)