MGI phenotypes (allele matching)
STOCK Nebtm2.1Chen/Cnrm
| Status | Available to order |
| EMMA ID | EM:07147 |
| Citation information | RRID:IMSR_EM:07147 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | STOCK Nebtm2.1Chen/Cnrm |
| Alternative name | Nebulin SH3 deleted |
| Strain type | Targeted Mutant Strains : Other targeted |
| Allele/Transgene symbol | Nebtm2.1Chen |
| Gene/Transgene symbol | Neb |
Information from provider
| Provider | Marie-Louise Bang |
| Provider affiliation | University of California San Diego |
| Genetic information | Nebulin truncation resulting in deletion of its C-terminal SH3 domain encoded by nebulin's last exon, through replacement of residue I7097 with stop codons in all reading frames. |
| Phenotypic information | Nebulin SH3 truncated mice do not exhibit any obvious skeletal muscle phenotype except for the generation of slightly lower isometric force at lower frequencies and potentially higher susceptibility to eccentric contraction-induced injury. |
| Breeding history | The chimeric mice were crossed with Black Swiss mice to achieve germline transmission and were subsequently crossed once more with Black Swiss mice. After that they were kept in the mixed background. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Intermediate nemaline myopathy / Orphanet_171433
- Distal nebulin myopathy / Orphanet_399103
- Lethal multiple pterygium syndrome / Orphanet_33108
- Severe congenital nemaline myopathy / Orphanet_171430
- Childhood-onset nemaline myopathy / Orphanet_171439
- Typical nemaline myopathy / Orphanet_171436
MGI phenotypes (gene matching)
- kyphosis / MGI
- muscle weakness / MGI
- progressive muscle weakness / MGI
- decreased body weight / MGI
- blepharoptosis / MGI
- abnormal gait / MGI
- abnormal suckling behavior / MGI
- postnatal growth retardation / MGI
- abnormal muscle physiology / MGI
- abnormal skeletal muscle fiber morphology / MGI
- abnormal muscle fiber morphology / MGI
- abnormal sarcomere morphology / MGI
- abnormal Z line morphology / MGI
- abnormal muscle electrophysiology / MGI
- increased susceptibility to injury / MGI
- muscle phenotype / MGI
- abnormal muscle contractility / MGI
- decreased skeletal muscle fiber size / MGI
- decreased total body fat amount / MGI
- lethality at weaning, complete penetrance / MGI
- postnatal lethality, complete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- abnormal A band morphology / MGI
- abnormal I band morphology / MGI
- abnormal H zone morphology / MGI
Literature references
- The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse.;Yamamoto Daniel L, Vitiello Carmen, Zhang Jianlin, Gokhin David S, Castaldi Alessandra, Coulis Gerald, Piaser Fabio, Filomena Maria Carmela, Eggenhuizen Peter J, Kunderfranco Paolo, Camerini Serena, Takano Kazunori, Endo Takeshi, Crescenzi Marco, Luther Pradeep K L, Lieber Richard L, Chen Ju, Bang Marie-Louise, ;2013;Journal of cell science;126;5477-89; 24046450