Ecel1^em2Hiki
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ecel1^em2Hiki
• Name: endothelin converting enzyme-like 1; endonuclease-mediated mutation 2, Hiroshi Kiyama
• MGI ID: MGI:6160056
• Synonyms: G607S
• Gene: Ecel1 Location: Chr1:87075377-87084243 bp, - strand Genetic Position: Chr1, 44.06 cM, cytoband C5
• Alliance: Ecel1^em2Hiki page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A missense mutation at position 1819 in exon 13, resulting in a glycine to serine substitution at amino acid 607. Quantitative real time PCR shows that mRNA level is decreased and Western blot analysis indicates reduced protein expression. Sequencing analyses on the TA cloned RT-PCR products indicate the occurrence of splicing defects, with an aberrant transcript with intron retention containing a nucleotide sequence corresponding to a translation termination codon, likely inducing mRNA degradation. (J:260240)

Expression

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:260240 Nagata K, et al., Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders. Acta Neuropathol Commun. 2017 Nov 13;5(1):83
• All: 1 reference(s)