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Emg1tm1.1Btr
Targeted Allele Detail
Nomenclature
Symbol: Emg1tm1.1Btr
Name: EMG1 N1-specific pseudouridine methyltransferase; targeted mutation 1.1, Barbara Triggs-Raine
MGI ID: MGI:5787927
Synonyms: EMG1 D86G, Emg1G
Gene: Emg1  Location: Chr6:124704370-124712186 bp, - strand  Genetic Position: Chr6, 59.17 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:230556
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 2 was replaced with a modified one containing an A to G point mutation that reasults in the amino acid substitution of glycine for aspartic acid at position 86 (D86G). This mutation is associated with Bowen-Conradi syndrome (BCS). Flp-mediated recombination removed the inserted splice acceptor IRES beta-geo cassette. (J:230556)
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: 7 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 Emg1 Mutation:  22 strains or lines available
References
Original:  J:230556 Armistead J, et al., Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression. Biochim Biophys Acta. 2015 May;1852(5):1029-37
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
02/16/2021
MGI 6.16
The Jackson Laboratory