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Klhl17em1Yph
Endonuclease-mediated Allele Detail
Summary
Symbol: Klhl17em1Yph
Name: kelch-like 17; endonuclease-mediated mutation 1, Yi-Ping Hsueh
MGI ID: MGI:6728081
Gene: Klhl17  Location: Chr4:156313792-156319314 bp, - strand  Genetic Position: Chr4, 88.63 cM
Alliance: Klhl17em1Yph page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/Cas9 technology using gRNAs 5'-CTAACCTAGGCGCCACACGA (targeting the promoter region) and 5'-TAGACGTTGGAGTTCTATGG (targeting the region after exon 12) deleted the entire gene (exons 1 to 12). Western blot analysis confirmed absence of protein in homozygous neurons. (J:308069)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Klhl17 Mutation:  10 strains or lines available
References
Original:  J:308069 Hu HT, et al., KLHL17/Actinfilin, a brain-specific gene associated with infantile spasms and autism, regulates dendritic spine enlargement. J Biomed Sci. 2020 Dec 1;27(1):103
All:  2 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