Dnhd1^em1Glin
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dnhd1^em1Glin
• Name: dynein heavy chain domain 1; endonuclease-mediated mutation 1, Ge Lin
• MGI ID: MGI:6885589
• Gene: Dnhd1 Location: Chr7:105300034-105371006 bp, + strand Genetic Position: Chr7, 55.93 cM, cytoband F1
• Alliance: Dnhd1^em1Glin page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology using sgRNA 5'-CTAGGGAAAATAATTTAGATAGG-3' generated a 31-bp deletion in exon 22 resulting in a truncated protein c.5572_5602del (p.1858Trpfs*24). Reverse-transcription quantitative PCR confirmed absence of mRNA expression in the testes. (J:321189)

Expression

In Structures Affected by this Mutation:

1 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 Dnhd1 Mutation: 196 strains or lines available

References

• Original: J:321189 Tan C, et al., Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2022 Jan 6;109(1):157-171
• All: 1 reference(s)