Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Nebtm1Slbt
Name:	nebulin; targeted mutation 1, Siegfried Labeit
MGI ID:	MGI:3703320
Synonyms:	NEB KO
Gene:	Neb  Location: Chr2:52026652-52228810 bp, - strand  Genetic Position: Chr2, 29.98 cM
Alliance:	Nebtm1Slbt page

Germline Transmission:	Earliest citation of germline transmission: J:119578
Parent Cell Line:	IB10/E14IB10 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: The cap site, TATA-box and its putative Tmod-binding aminoterminal domain in the 5' UTR were replaced with a neomycin resistance cassette (also known as exon 2 and 3 in later reports). Western blot revealed absence of transcript in mutant mice. (J:119578)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	3 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

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

Original:	J:119578 Witt CC, et al., Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo. EMBO J. 2006 Aug 23;25(16):3843-55
All:	10 reference(s)