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Phenotypes Associated with This Genotype
Genotype
MGI:4838324
Allelic
Composition
Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttntm1.1Isrd mutation (0 available); any Ttn mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• soleus has immunohistochemical markers of necrotizing injury in 9 month old animals

mortality/aging
• based upon significant deviation from Mendelian rations, prenatal loss affects nearly 9/10 of homozygous animals, however at E12 embryo ratios exist at a Mendelain ratio, with the presence of necrotic embryos.

muscle
• LV fractional shortening and ejection fraction are significantly reduced
• ITGAM positive cells in the soleus of 9 month old animals
• modified OBSCN staining, and M band width
• pathological features are the presence of fibers with centrally located nuclei and heterogeneity of fiber sizes within the entire muscle area.
• soleus has immunohistochemical markers of necrotizing injury in 9 month old animals
• Biceps Femoris, gluteus and psoas show the first signs of dystrophy at 6 months of age
• signs of dystrophy at 6 months of age
• signs of dystrophy at 6 months of age
• signs of dystrophy at 6 months of age
• soleus is the first muscle to be affected, from 1 month of age and the tibialis anterior, Quadriceps, Psoas, gastrocnemius, gluteus, and Biceps Femoris show the first signs of dystrophy later at 6 months of age
• In vitro, the specific force generated after tetanic stimulation of the soleus muscle has a a loss of 32 and 40% at 4 and 9 months of age, respectively

immune system
• ITGAM positive cells in the soleus of 9 month old animals

cardiovascular system
• LV fractional shortening and ejection fraction are significantly reduced


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory