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Ecel1em1Hiki
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Ecel1em1Hiki
Name: endothelin converting enzyme-like 1; endonuclease-mediated mutation 1, Hiroshi Kiyama
MGI ID: MGI:6160000
Gene: Ecel1  Location: Chr1:87147655-87156521 bp, - strand  Genetic Position: Chr1, 44.06 cM, cytoband C5
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Not Applicable)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/Cas9 technology generated a pathogenic T to C missense mutation in exon 18 resulting in a cysteine to arginine substitution at amino acid 760 (C760R). Quantitative real-time PCR indicates that mRNA is upregulated in the spinal cord by 20%. Western blot analysis indicates that only one product of posttranslational modification is detected compared to two different ones in wild-type spinal cords. (J:262090)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 4 assay results
In Structures Affected by this Mutation: 3 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 Ecel1 Mutation:  23 strains or lines available
References
Original:  J:262090 Nagata K, et al., ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis. Acta Neuropathol. 2016 Jul;132(1):111-26
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
01/14/2020
MGI 6.14
The Jackson Laboratory