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Espnlem1Pgg
Endonuclease-mediated Allele Detail
Summary
Symbol: Espnlem1Pgg
Name: espin-like; endonuclease-mediated mutation 1, Peter G Gillespie
MGI ID: MGI:7581062
Synonyms: Espnldelta
Gene: Espnl  Location: Chr1:91249797-91276028 bp, + strand  Genetic Position: Chr1, 46.08 cM
Alliance: Espnlem1Pgg page
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/Cas9 genome editing technology was used to create a deletion spanning from exon 1 to exon 8. This allele (c.135_1301del1165) forms protein p.A46Tfs14 and is referred to as Espnldelta. No labeling with BG35961 anti-ESPNL antibody was detected in cochlear hair bundles of homozygous mutant mice, indicating that this is a null allele. (J:236347)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Espnl Mutation:  30 strains or lines available
References
Original:  J:236347 Ebrahim S, et al., Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like. Nat Commun. 2016 Mar 01;7:10833
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
11/12/2024
MGI 6.24
The Jackson Laboratory