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Ubiad1em1Wwk
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Ubiad1em1Wwk
Name: UbiA prenyltransferase domain containing 1; endonuclease-mediated mutation 1, Winston W Y Kao
MGI ID: MGI:6273244
Synonyms: Ubiad1N100S
Gene: Ubiad1  Location: Chr4:148518952-148529217 bp, - strand  Genetic Position: Chr4, 78.76 cM, cytoband E1
Mutation
origin
Strain of Origin:  C57BL/6N
Mutation
description
Allele Type:    Endonuclease-mediated (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 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 Ubiad1 Mutation:  22 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)

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
05/10/2022
MGI 6.19
The Jackson Laboratory