About   Help   FAQ
Targeted Allele Detail
Symbol: Efhc1tm1Kzy
Name: EF-hand domain (C-terminal) containing 1; targeted mutation 1, Kazuhiro Yamakawa
MGI ID: MGI:3774032
Gene: Efhc1  Location: Chr1:20951626-20990841 bp, + strand  Genetic Position: Chr1, 6.5 cM, cytoband A5
Germline Transmission:  Earliest citation of germline transmission: J:131019
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA pgk-neo cassette was inserted into exon 1 resulting in a frameshift at amino acid 14 and a premature stop codon 6 amino acids downstream of the frameshift. RT-PCR confirmed the absence of RNA expression in the brain, liver, and kidney of homozygous mice. Western blot and immunohistochemical analysis confirmed the absence of protein expression in homozygous mice. (J:131019, J:145858)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 6 assay results
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 Efhc1 Mutation:  23 strains or lines available
Original:  J:131019 Suzuki T, et al., Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia. Biochem Biophys Res Commun. 2008 Feb 29;367(1):226-33
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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.16
The Jackson Laboratory