Phenotypes Associated with This Genotype

Genotype
MGI:3583813

• Allelic Composition: Itga7^tm1Umr/Itga7^tm1Umr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:43840 )

• partial embryonic lethality between E12 and E14

• survivors are viable and fertile

muscle

abnormal skeletal muscle morphology ( J:43840 , J:82116 )

• muscle fiber necrosis and mononuclear cell infiltration at the myotendinous junctions of gastrocnemius and tibialis anterior muscles (J:43840)

• reduced interdigitations in adult myotendinous junctions (J:82116)

• ends of muscle fibers abnormal, exhibiting vacuoles, dented ends, sometimes doubled in diameter (J:82116)

abnormal soleus morphology ( J:43840 )

• variable fiber size

• centrally located nuclei

• occasional split and hypertrophic fibers

skeletal muscle fiber atrophy ( J:43840 )

• skeletal muscle fibers show numerous atrophic fibers

increased skeletal muscle fiber size ( J:43840 )

• described in soleus and diaphragm

increased variability of skeletal muscle fiber size ( J:43840 )

• skeletal muscle fibers show variation in myofiber size

centrally nucleated skeletal muscle fibers ( J:43840 )

• in soleus and diaphragm

abnormal diaphragm morphology ( J:43840 )

• effects seen starting around 60 days of age

• fewer centrally located nuclei but huge hypertrophic fibers and extensive fibrotic areas

• no overt respiratory problems however

dystrophic muscle ( J:43840 )

• soleus muscle of 100 day old mice shows myopathic pattern characteristic of muscular dytrophies

muscle degeneration ( J:43840 )

• muscle degeneration paralleled by endomysial connective tissue production

• foci of muscle degeneration and phagocytosis seen by around 24 days of age

• increased numbers of centrally located nuclei between 24 and 100 days of age

homeostasis/metabolism

increased circulating creatine kinase level ( J:43840 )

• 6-10 fold increase in serum creatine kinase after 100 days of age

nervous system

abnormal Schwann cell physiology ( J:204174 )

• cells spread less when plated on laminin compared to wild-type cells

limbs/digits/tail

abnormal soleus morphology ( J:43840 )

• variable fiber size

• centrally located nuclei

• occasional split and hypertrophic fibers

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital muscular dystrophy due to integrin alpha-7 deficiency		DOID:0110639	OMIM:613204	J:82116