Neb^tm6.1Hgra
Targeted Allele Detail

Summary

• Symbol: Neb^tm6.1Hgra
• Name: nebulin; targeted mutation 6.1, Henk Granzier
• MGI ID: MGI:8204928
• Synonyms: Neb^delta163-165
• Gene: Neb Location: Chr2:52026652-52228810 bp, - strand Genetic Position: Chr2, 29.98 cM
• Alliance: Neb^tm6.1Hgra page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:276450
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: A stop codon is introduced near the beginning of exon 163 (following codon ending at mm10:chr2:52147778). Flp-mediated recombination removed the selection cassette. (J:276450)

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: 399 strains or lines available

References

• Original: J:276450 Li F, et al., Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy. Hum Mol Genet. 2019 May 15;28(10):1709-1725
• All: 1 reference(s)