Eif2b5^tm1.1Sidr
Targeted Allele Detail

Summary

• Symbol: Eif2b5^tm1.1Sidr
• Name: eukaryotic translation initiation factor 2B, subunit 5 epsilon; targeted mutation 1.1, Carmela Sidrauski
• MGI ID: MGI:6416103
• Synonyms: Eif2b5^R191H, Eif2b5^R191H(flox)
• Gene: Eif2b5 Location: Chr16:20317567-20328073 bp, + strand Genetic Position: Chr16, 12.45 cM
• Alliance: Eif2b5^tm1.1Sidr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:278928
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A CGC to CAC codon substitution was made in exon 4, changing residue arginine 191 to histamine, loxP sites were inserted flanking exons 3 and 7, and a FRT-flanked neomycin resistance cassette was inserted between exons 2 and 3. The neomycin resistance cassette was removed via flp-mediated recombination. The R191H mutation is homologous to the human R195H mutation that causes an infantile-onset, rapidly progressing form of vanishing white matter. (J:278928)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Eif2b5 Mutation: 31 strains or lines available

References

• Original: J:278928 Wong YL, et al., eIF2B activator prevents neurological defects caused by a chronic integrated stress response. Elife. 2019 Jan 9;8:e42940
• All: 1 reference(s)