Neb^tm3.1Hgra
Targeted Allele Detail

Summary

• Symbol: Neb^tm3.1Hgra
• Name: nebulin; targeted mutation 3.1, Henk Granzier
• MGI ID: MGI:7565576
• Synonyms: Neb^S6366I
• Gene: Neb Location: Chr2:52026652-52228810 bp, - strand Genetic Position: Chr2, 29.98 cM
• Alliance: Neb^tm3.1Hgra page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:291849
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Single point mutation
• Mutation details: A targeting vector was designed to knock-in the c.19097G>T (p.Ser6366Ile) missense variant into exon 106 and an FRT-flanked MC1-neomycin resistance cassette upstream of this exon. The neomycin selection cassette was removed via flp-mediated recombination. (J:291849)

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 Neb Mutation: 401 strains or lines available

References

• Original: J:291849 Lindqvist J, et al., Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism. Nat Commun. 2020 Jun 1;11(1):2699
• All: 2 reference(s)