Phenotypes associated with this allele

• Allele Symbol: Ttn^mdm
• Allele Name: muscular dystrophy with myositis
• Allele ID: MGI:1856953
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttn^mdm/Ttn^mdm	involves: C57BL/6J	MGI:3041565
hm2	Ttn^mdm/Ttn^mdm	Not Specified	MGI:3041561

Genotype
MGI:3041565

hm1

• Allelic Composition: Ttn^mdm/Ttn^mdm
• Genetic Background: involves: C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:87870 )

• mice die around 2 months of age

growth/size/body

decreased body weight ( J:87870 )

• weight is reduced to roughly half that of control mice at 24 days of age

muscle

muscle phenotype ( J:87870 )

N • myofibrils were ultrastructurally similar to those of wild-type

N • the tension-generating capacity of soleus fibers was normal

Genotype
MGI:3041561

hm2

• Allelic Composition: Ttn^mdm/Ttn^mdm
• Genetic Background: Not Specified

mortality/aging

premature death ( J:14016 )

• mice become very stiff and immobile and most are dead by 2 months of age

immune system

myositis ( J:14016 )

• acute and chronic myositis

muscle

myositis ( J:14016 )

• acute and chronic myositis

muscle degeneration ( J:14016 )

skeleton

kyphosis ( J:14016 )

• the entire thoracic and lumbar spine shows an exaggerated convex curvature by 12 days of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2J		DOID:0110283	OMIM:608807	J:74611