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| Nomenclature |
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Symbol:
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Efhc1tm1Kzy
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Name:
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EF-hand domain (C-terminal) containing 1;
targeted mutation 1, Kazuhiro Yamakawa
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MGI ID: |
MGI:3774032 |
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Gene:
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Efhc1
Location:
Chr1:20951626-20990838 bp, + strand
Genetic Position: Chr1,
6.5 cM, cytoband A5
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:131019
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: A 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Efhc1 Mutation:
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1 strain or line available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
