Armc2^em1Pfr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Armc2^em1Pfr
• Name: armadillo repeat containing 2; endonuclease-mediated mutation 1, Pierre Ray
• MGI ID: MGI:6368816
• Synonyms: Armc2^-, Armc2^mutant
• Gene: Armc2 Location: Chr10:41790986-41894438 bp, - strand Genetic Position: Chr10, 22.77 cM
• Alliance: Armc2^em1Pfr page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: CRISPR-Cas9 technology was used to introduce a one-nucleotide duplication in exon 4, inducing a translational frameshift expected to lead to the complete absence of encoded protein or the production of a truncated protein. RT-PCR analysis of testis mRNA revealed that the level of mRNA amplification was significantly reduced in homozygous mutant mice. Sanger sequencing of mRNA confirmed the production of abnormal transcripts with a premature stop codon 12 nucleotides after the first modified codon at position 135. (J:279937)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Armc2 Mutation: 50 strains or lines available

References

• Original: J:279937 Coutton C, et al., Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. Am J Hum Genet. 2019 Feb 7;104(2):331-340
• All: 2 reference(s)