Ufm1^tm1.1Kmts
Targeted Allele Detail

Summary

• Symbol: Ufm1^tm1.1Kmts
• Name: ubiquitin-fold modifier 1; targeted mutation 1.1, Masaaki Komatsu
• MGI ID: MGI:5903257
• Synonyms: Ufm^f
• Gene: Ufm1 Location: Chr3:53760797-53771228 bp, - strand Genetic Position: Chr3, 25.43 cM
• Alliance: Ufm1^tm1.1Kmts page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:240522
• Parent Cell Line: RENKA (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutation: Insertion
• Mutation details: A loxP site was inserted upstream of exon 1 and an FRT site flanked neomycin resistance gene cassette and a second loxP site were inserted into intron 2. The neo cassette was removed through subsequent flp-mediated recombination, leaving a conditional-ready allele with exons 1 and 2 floxed. (J:240522)

Expression

In Structures Affected by this Mutation:

6 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 Ufm1 Mutation: 11 strains or lines available

References

• Original: J:240522 Muona M, et al., Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. Am J Hum Genet. 2016 Sep 01;99(3):683-94
• All: 1 reference(s)