Emg1^tm1.1Btr
Targeted Allele Detail

Summary

• Symbol: Emg1^tm1.1Btr
• Name: EMG1 N1-specific pseudouridine methyltransferase; targeted mutation 1.1, Barbara Triggs-Raine
• MGI ID: MGI:5787927
• Synonyms: EMG1 D86G, Emg1^G
• Gene: Emg1 Location: Chr6:124681344-124689118 bp, - strand Genetic Position: Chr6, 59.17 cM
• Alliance: Emg1^tm1.1Btr page

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 details: Exon 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)

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results
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 Emg1 Mutation: 23 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)