Dnah8^em1Osb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dnah8^em1Osb
• Name: dynein, axonemal, heavy chain 8; endonuclease-mediated mutation 1, Research Institute for Microbial Diseases, Osaka University
• MGI ID: MGI:6473983
• Synonyms: Dnah8^em1, Dnah8^em1Maik
• Gene: Dnah8 Location: Chr17:30845909-31094736 bp, + strand Genetic Position: Chr17, 15.71 cM
• Alliance: Dnah8^em1Osb page

Mutation origin

• Strain of Origin: (C57BL/6 x DBA/2)F2

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/Cas9 technology used gRNAs (gRNA #1: 5'-GCCACCCCCTCCGAGTGAAG-3' and gRNA #2: 5'-TAGAATCAGAAGCGTGAATT-3') targeting exons 2 and 93 to delete the entire coding region which resulted in a 239,922 bp deletion plus a 4 bp insertion. Western blot analysis confirmed the absence of protein in the testis of homozygous mice. (J:297137)

Disease models

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: 2 strains available Cell Lines: 0 lines available
• Carrying any Dnah8 Mutation: 262 strains or lines available

References

• Original: J:297137 Liu C, et al., Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility. Am J Hum Genet. 2020 Aug 6;107(2):330-341
• All: 1 reference(s)