Phenotypes associated with this allele

• Allele Symbol: Itga7^tm1Umr
• Allele Name: targeted mutation 1, Ulrike Mayer
• Allele ID: MGI:2153005
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Itga7^tm1Umr/Itga7^tm1Umr	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3583813
cn2	Itga6^tm2Egl/Itga6^tm2Egl Itga7^tm1Umr/Itga7^tm1Umr Tg(Mpz-cre)26Mes/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/NTac	MGI:5563096
cx3	Itga7^tm1Umr/Itga7^tm1Umr Sgcg^tm1Mcn/Sgcg^tm1Mcn	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3583814

Genotype
MGI:3583813

hm1

• 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

Genotype
MGI:5563096

cn2

• Allelic Composition: Itga6^tm2Egl/Itga6^tm2Egl; Itga7^tm1Umr/Itga7^tm1Umr; Tg(Mpz-cre)26Mes/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/NTac

nervous system

abnormal axon radial sorting ( J:204174 )

• delay in radial sorting of axons in the sciatic nerve at P5

• arrest in radial sorting, with axon bundles containing naked, mixed caliber axons

abnormal sciatic nerve morphology ( J:204174 )

• arrest in radial sorting, with axon bundles containing mixed caliber axons lacking ensheathing Schwann cells and having redundant and detached basal lamina

axon degeneration ( J:204174 )

abnormal Schwann cell physiology ( J:204174 )

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

abnormal myelination ( J:204174 )

• bundles of naked axons are seen at P15 and P28 in the sciatic nerve

hypermyelination ( J:204174 )

Genotype
MGI:3583814

cx3

• Allelic Composition: Itga7^tm1Umr/Itga7^tm1Umr; Sgcg^tm1Mcn/Sgcg^tm1Mcn
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

lethality at weaning, complete penetrance ( J:91880 )

• average life span 21 days

• nearly all dead by 25 days of age

behavior/neurological

decreased grooming behavior ( J:91880 )

• little or no grooming behavior

abnormal stationary movement ( J:91880 )

• reduced mobility

abnormal gait ( J:91880 )

• display a "hopping" gait

muscle

muscle degeneration ( J:91880 )

• severe skeletal muscle degeneration, widespread rather than focal

• ongoing necrosis accompanied by regeneration

growth/size/body

postnatal growth retardation ( J:91880 )

• smaller size than controls

• weighed half as much as controls by 25 days of age

skeleton

kyphoscoliosis ( J:91880 )

cellular

abnormal cell physiology ( J:91880 )

• enhance muscle cell membrane permeability

increased apoptosis ( J:91880 )