- kyphosis / MGI
- abnormal angiogenesis / MGI
- absent organized vascular network / MGI
- abnormal heart development / MGI
- abnormal myocardial fiber morphology / MGI
- ventricular hypoplasia / MGI
- trabecula carnea hypoplasia / MGI
- cellular necrosis / MGI
- microcephaly / MGI
- muscle degeneration / MGI
- dystrophic muscle / MGI
- abnormal skeletal muscle morphology / MGI
- decreased body weight / MGI
- abnormal blood vessel morphology / MGI
- cardiac hypertrophy / MGI
- abnormal somite development / MGI
- decreased embryo size / MGI
- pericardial edema / MGI
- hemorrhage / MGI
- premature death / MGI
- abnormal muscle physiology / MGI
- abnormal cardiovascular system morphology / MGI
- abnormal blood circulation / MGI
- no abnormal phenotype detected / MGI
- abnormal myocardial trabeculae morphology / MGI
- abnormal diaphragm morphology / MGI
- heart left ventricle hypertrophy / MGI
- thin myocardium / MGI
- dilated heart left ventricle / MGI
- dilated cardiomyopathy / MGI
- decreased heart weight / MGI
- impaired skeletal muscle contractility / MGI
- abnormal cardiovascular development / MGI
- thick ventricular wall / MGI
- abnormal cardiac muscle contractility / MGI
- abnormal soleus morphology / MGI
- abnormal gastrocnemius morphology / MGI
- abnormal tibialis anterior morphology / MGI
- abnormal hypaxial muscle morphology / MGI
- abnormal response/metabolism to endogenous compounds / MGI
- increased left ventricle diastolic pressure / MGI
- increased left ventricle systolic pressure / MGI
- increased left ventricle weight / MGI
- abnormal heart left ventricle morphology / MGI
- abnormal heart left atrium morphology / MGI
- embryonic growth retardation / MGI
- decreased diastolic filling velocity / MGI
- abnormal vitelline vascular remodeling / MGI
- absent heartbeat / MGI
- abnormal sarcomere morphology / MGI
- abnormal M line morphology / MGI
- abnormal myocardial fiber physiology / MGI
- myositis / MGI
- enlarged myocardial fiber / MGI
- abnormal dorsal aorta morphology / MGI
- hypoxia / MGI
- decreased cardiac muscle contractility / MGI
- abnormal heart ventricle morphology / MGI
- pericardial effusion / MGI
- abnormal myocardium layer morphology / MGI
- muscle phenotype / MGI
- cardiovascular system phenotype / MGI
- decreased ventricle muscle contractility / MGI
- cardiac interstitial fibrosis / MGI
- abnormal muscle contractility / MGI
- increased apoptosis / MGI
- abnormal first pharyngeal arch morphology / MGI
- increased variability of skeletal muscle fiber size / MGI
- centrally nucleated skeletal muscle fibers / MGI
- skeletal muscle fiber atrophy / MGI
- skeletal muscle fiber necrosis / MGI
- decreased soleus weight / MGI
- abnormal quadriceps morphology / MGI
- increased heart left ventricle size / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- abnormal frontonasal mesenchyme morphology / MGI
- increased heart left atrium weight / MGI
- impaired exercise endurance / MGI
- increased embryonic tissue cell apoptosis / MGI
C3HeB/FeJ-Ttnm1Mhda/Ieg
| Status | Available to order |
| EMMA ID | EM:10210 |
| Citation information | RRID:IMSR_EM:10210 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 | C3HeB/FeJ-Ttnm1Mhda/Ieg |
| Alternative name | C3HeB/FeJ-TtnD5939GMhda (internal lab code Ttn-02) |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Ttnm1Mhda |
| Gene/Transgene symbol | Ttn |
Information from provider
| Provider | Martin Hrabe de Angelis |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum München |
| Genetic information | Exon 46 c.17816 T to C, p.Asp5939Gly PROVEAN prediction:-3.033 (deleterious). |
| Phenotypic information | Homozygous:Not phenotyped.Heterozygous:Not phenotyped. |
| Breeding history | Outcrossed candidate gene obtained by next generation sequencing of ENU mutagenesis derived mutant lines. |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | heterozygous C3H males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Classic multiminicore myopathy / Orphanet_324604
- Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome / Orphanet_466921
- Familial isolated arrhythmogenic ventricular dysplasia, biventricular form / Orphanet_293899
- Familial isolated arrhythmogenic ventricular dysplasia, left dominant form / Orphanet_293888
- Tibial muscular dystrophy / Orphanet_609
- Familial isolated dilated cardiomyopathy / Orphanet_154
- Autosomal recessive centronuclear myopathy / Orphanet_169186
- Titin-related limb-girdle muscular dystrophy R10 / Orphanet_140922
- Hereditary myopathy with early respiratory failure / Orphanet_178464
- Early-onset myopathy with fatal cardiomyopathy / Orphanet_289377
- Familial isolated arrhythmogenic ventricular dysplasia, right dominant form / Orphanet_293910
MGI phenotypes (gene matching)
Information on how we integrate external resources can be found here
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