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Ufm1tm1.1Kmts
Targeted Allele Detail
Nomenclature
Symbol: Ufm1tm1.1Kmts
Name: ubiquitin-fold modifier 1; targeted mutation 1.1, Masaaki Komatsu
MGI ID: MGI:5903257
Synonyms: Ufmf
Gene: Ufm1  Location: Chr3:53853376-53863807 bp, - strand  Genetic Position: Chr3, 25.43 cM
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 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 Ufm1 Mutation:  1 strain or line 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)

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
09/10/2019
MGI 6.14
The Jackson Laboratory