Ecel1^em1Hiki
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ecel1^em1Hiki
• Name: endothelin converting enzyme-like 1; endonuclease-mediated mutation 1, Hiroshi Kiyama
• MGI ID: MGI:6160000
• Gene: Ecel1 Location: Chr1:87075377-87084243 bp, - strand Genetic Position: Chr1, 44.06 cM, cytoband C5
• Alliance: Ecel1^em1Hiki page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Single point mutation
• Mutation details: CRISPR/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)

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

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: 41 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)