4930447C04Rik^em1Qsh
Endonuclease-mediated Allele Detail

Summary

• Symbol: 4930447C04Rik^em1Qsh
• Name: RIKEN cDNA 4930447C04 gene; endonuclease-mediated mutation 1, Qinghua Shi
• MGI ID: MGI:7428645
• Synonyms: Six6os1^deltaC
• Gene: 4930447C04Rik Location: Chr12:72926967-72964742 bp, - strand Genetic Position: Chr12, 30.3 cM, cytoband C3
• Alliance: 4930447C04Rik^em1Qsh page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 4 bp deletion, c.907_910del (p.Asn303Serfs*9), introducing a premature stop codon and resulting in a truncated protein lacking 272 C-terminal amino acids. Western blot analysis confirmed the presence of truncated protein in testis lysate. (J:313843)

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 4930447C04Rik Mutation: 29 strains or lines available

References

• Original: J:313843 Fan S, et al., Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. Am J Hum Genet. 2021 Feb 4;108(2):324-336
• All: 1 reference(s)