Neb^tm2Hgra
Targeted Allele Detail

Summary

• Symbol: Neb^tm2Hgra
• Name: nebulin; targeted mutation 2, Henk Granzier
• MGI ID: MGI:5642118
• Synonyms: Neb^flox
• Gene: Neb Location: Chr2:52026652-52228810 bp, - strand Genetic Position: Chr2, 29.98 cM
• Alliance: Neb^tm2Hgra page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:225840
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutation: Insertion
• Mutation details: A loxP site was inserted into the untranslated region of exon 2 upstream of the translation start site. An FRT-flanked neomycin resistance cassette with a 3' loxP site was inserted downstream of exon 3. (J:225840)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 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:225840 Li F, et al., Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. Hum Mol Genet. 2015 Sep 15;24(18):5219-33
• All: 9 reference(s)