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Elmod3em1Jili
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Elmod3em1Jili
Name: ELMO/CED-12 domain containing 3; endonuclease-mediated mutation 1, Jie Ling
MGI ID: MGI:6455516
Gene: Elmod3  Location: Chr6:72565922-72598413 bp, - strand  Genetic Position: Chr6, 32.27 cM
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsCRISPR/Cas9 technology replaced exon 6 containing the start codon with a neomycin resistance gene cassette resulting in a 277 bp deletion resulting in a frameshift mutation and premature termination codon at residue 149. Western blot confirmed the absence of the protein in the cochlea. (J:293683)
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 Elmod3 Mutation:  16 strains or lines available
References
Original:  J:293683 Li W, et al., Elmod3 knockout leads to progressive hearing loss and abnormalities in cochlear hair cell stereocilia. Hum Mol Genet. 2019 Dec 15;28(24):4103-4112
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
02/16/2021
MGI 6.16
The Jackson Laboratory