Ubiad1^em1Wwk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ubiad1^em1Wwk
• Name: UbiA prenyltransferase domain containing 1; endonuclease-mediated mutation 1, Winston W Y Kao
• MGI ID: MGI:6273244
• Synonyms: Ubiad1^N100S
• Gene: Ubiad1 Location: Chr4:148518952-148529217 bp, - strand Genetic Position: Chr4, 78.76 cM, cytoband E1
• Alliance: Ubiad1^em1Wwk page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a single A to G mutation at nucleotide 600 in exon 1 resulting in an asparagine to serine substitution at amino acid 100 (N100S). Three other synonymous mutations (T to C at nt592, T to C at nt593, and G to T at nt595) were found. (J:268574)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Ubiad1 Mutation: 25 strains or lines available

Notes

The mouse line was terminated and no preserved sperm and/or embryos were available..

References

• Original: J:268574 Dong F, et al., A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation. Sci Rep. 2018 Jul 5;8(1):10219
• All: 1 reference(s)