Ddx25^{tm2.1(DDX25*R242H)Mld}
Targeted Allele Detail

Summary

• Symbol: Ddx25^{tm2.1(DDX25*R242H)Mld}
• Name: DEAD box helicase 25; targeted mutation 2.1, Maria L Dufau
• MGI ID: MGI:6759011
• Synonyms: GRTH-KI^h
• Gene: Ddx25 Location: Chr9:35453144-35469766 bp, - strand Genetic Position: Chr9, 20.31 cM, cytoband A3-A5
• Alliance: Ddx25^{tm2.1(DDX25*R242H)Mld} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:291302
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/SvJ

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Inserted expressed sequence, Reporter)
• Mutations: Insertion, Intragenic deletion
• Ddx25^{tm2.1(DDX25*R242H)Mld} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  DDX25 (29118)

  Ddx25

  (MGI:1353582)

  human cDNA containing R242H mutation

• Mutation details: A cassette consisting of mouse exon 1, EGFP reporter sequence, loxP site, 2A self-cleaving peptide sequence, human DDX25 cDNA containing an arginine to histidine substitution at amino acid 242, SV40 sequence, loxP site, FRT-flanked PGK-neomycin selection cassette, and third loxP site replaced exons 1-5 of the gene. Flp-mediated recombination removed the neomycin cassette. The R242H variant is found in Japanese infertile men. (J:291302)

Expression

In Mice Carrying this Mutation:

5 RNA-Seq or microarray experiment(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 Ddx25 Mutation: 26 strains or lines available

References

• Original: J:291302 Kavarthapu R, et al., Targeted Knock-In Mice with a Human Mutation in GRTH/DDX25 Reveals the Essential Role of Phosphorylated GRTH in Spermatid Development during Spermatogenesis. Hum Mol Genet. 2019 Apr 22
• All: 4 reference(s)