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C9orf72em1Eggn
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: C9orf72em1Eggn
Name: C9orf72, member of C9orf72-SMCR8 complex; endonuclease-mediated mutation 1, Kevin Eggan
MGI ID: MGI:6118174
Synonyms: C9orf72 del
Gene: C9orf72  Location: Chr4:35191285-35226153 bp, - strand  Genetic Position: Chr4, 17.13 cM
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Not Specified)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/Cas9 mediated mutagenesis created a 38-nucleotide deletion in exon 4 predicted to generate a stop codon after 183 amino acids. (J:240357)
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: 2 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 C9orf72 Mutation:  4 strains or lines available
References
Original:  J:240357 Burberry A, et al., Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease. Sci Transl Med. 2016 Jul 13;8(347):347ra93
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
01/14/2020
MGI 6.14
The Jackson Laboratory