MGI phenotypes (allele matching)
STOCK Nebtm1(cre)Chen/Cnrm
| Status | Available to order |
| EMMA ID | EM:07145 |
| International strain name | STOCK Nebtm1(cre)Chen/Cnrm |
| Alternative name | Nebulin knockout |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Nebtm1(cre)Chen |
| Gene/Transgene symbol | Neb |
Information from provider
| Provider | Marie-Louise Bang |
| Provider affiliation | University of California San Diego |
| Genetic information | Knockout of nebulin. |
| Phenotypic information | Nebulin knockout mice die postnatally around day 10 and exhibit severe growth retardation, progressive muscle degradation, Z-line misalignment, and reduced thin filament length. |
| 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 | no |
| 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
- Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle.;Bang Marie-Louise, Li Xiaodong, Littlefield Ryan, Bremner Shannon, Thor Andrea, Knowlton Kirk U, Lieber Richard L, Chen Ju, ;2006;The Journal of cell biology;173;905-16; 16769824
- Nebulin plays a direct role in promoting strong actin-myosin interactions.;Bang Marie-Louise, Caremani Marco, Brunello Elisabetta, Littlefield Ryan, Lieber Richard L, Chen Ju, Lombardi Vincenzo, Linari Marco, ;2009;FASEB journal : official publication of the Federation of American Societies for Experimental Biology;23;4117-25; 19679637
- Reduced thin filament length in nebulin-knockout skeletal muscle alters isometric contractile properties.;Gokhin David S, Bang Marie-Louise, Zhang Jianlin, Chen Ju, Lieber Richard L, ;2009;American journal of physiology. Cell physiology;296;C1123-32; 19295172