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Armc2em1Pfr
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Armc2em1Pfr
Name: armadillo repeat containing 2; endonuclease-mediated mutation 1, Pierre Ray
MGI ID: MGI:6368816
Synonyms: Armc2-, Armc2mutant
Gene: Armc2  Location: Chr10:41914990-42018442 bp, - strand  Genetic Position: Chr10, 22.77 cM
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Insertion
 
Mutation detailsCRISPR-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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  33 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory