Neb^tm1.1Hgra
Targeted Allele Detail

Summary

• Symbol: Neb^tm1.1Hgra
• Name: nebulin; targeted mutation 1.1, Henk Granzier
• MGI ID: MGI:5553119
• Synonyms: Neb^deltaExon55
• Gene: Neb Location: Chr2:52026652-52228810 bp, - strand Genetic Position: Chr2, 29.98 cM
• Alliance: Neb^tm1.1Hgra page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:206854
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J-Tyr^c-2J

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: An FRT-flanked neomycin resistance cassette replaced exon 55 and parts of intron 54 and 55. Flp-mediated recombination removed the resistance cassette. Western blot analysis confirmed a severe reduction in protein expression in skeletal muscles. This allele is hypomorphic. (J:206854)

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 Neb Mutation: 401 strains or lines available

References

• Original: J:206854 Ottenheijm CA, et al., Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Brain. 2013 Jun;136(Pt 6):1718-31
• All: 5 reference(s)