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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ttntm1.1Isrd
targeted mutation 1, Isabelle Richard
MGI:4838322
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ttntm1.1Isrd/Ttntm1.1Isrd involves: 129S2/SvPas * C57BL/6 MGI:4838324
ht2
Ttntm1.1Isrd/Ttn+ involves: 129S2/SvPas * C57BL/6 MGI:4838323
cx3
Capn3tm1Jsb/Capn3+
Ttntm1.1Isrd/Ttn+
involves: 129/Sv * 129S2/SvPas * C57BL/6 MGI:4838326
cx4
Capn3tm1Jsb/Capn3+
Ttntm1.1Isrd/Ttntm1.1Isrd
involves: 129/Sv * 129S2/SvPas * C57BL/6 MGI:4838328


Genotype
MGI:4838324
hm1
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 (1455 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.

limbs/digits/tail
• 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

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




Genotype
MGI:4838323
ht2
Allelic
Composition
Ttntm1.1Isrd/Ttn+
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 (1455 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• dystrophic features arising from 9 months of age in Biceps Femoris
• dystrophic features arising from 9 months of age
• dystrophic features arising from 9 months of age

mortality/aging
• significant deviation from Mendelian rations at birth, prenatal loss affects half the heterozygous animals, however at E12 embryo ratios exist at a Mendelain ratio, with the presence of necrotic embryos

muscle
• dystrophic features arising from 9 months of age in Biceps Femoris
• dystrophic features arising from 9 months of age
• dystrophic features arising from 9 months of age
• dystrophic features in three specific muscles, tibialis anterior, Biceps Femoris and Quadriceps

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
tibial muscular dystrophy DOID:0111078 OMIM:600334
J:165576




Genotype
MGI:4838326
cx3
Allelic
Composition
Capn3tm1Jsb/Capn3+
Ttntm1.1Isrd/Ttn+
Genetic
Background
involves: 129/Sv * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Capn3tm1Jsb mutation (0 available); any Capn3 mutation (48 available)
Ttntm1.1Isrd mutation (0 available); any Ttn mutation (1455 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT tibial muscular dystrophy DOID:0111078 OMIM:600334
J:165576




Genotype
MGI:4838328
cx4
Allelic
Composition
Capn3tm1Jsb/Capn3+
Ttntm1.1Isrd/Ttntm1.1Isrd
Genetic
Background
involves: 129/Sv * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Capn3tm1Jsb mutation (0 available); any Capn3 mutation (48 available)
Ttntm1.1Isrd mutation (0 available); any Ttn mutation (1455 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• especially in soleus and the tibialis anterior

cardiovascular system





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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory