Mouse Genome Informatics
hm1
    Sgcgtm1Mcn/Sgcgtm1Mcn
involves: 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Stunted growth and abnormal stance in Sgcgtm1Mcn/Sgcgtm1Mcn mice

mortality/aging
• about 50% were dead by 5 months of age, 10% died by 3 weeks

behavior/neurological
N
• responded well in swimming tests at 7 weeks of age (J:57664)
• baseline activity levels improved after exercise (J:57664)
• less activity in general but particularly climbing and burrowing
• slow to initiate walking or running activity from a sitting position
• stiff walking gait with widened hind-leg spacing

cardiovascular system
• heart mass is reduced but heart to body weight ratio is increased due to smaller body size
• fibrosis is present in ventricles
• right and left ventricular walls are thickened by 20 weeks of age and the ventricular cavities nearly obliterated
• microvascular filling defects are seen involving coronary arteries
• coronary vasospasms increase with exercise

growth/size/body
• body weight was normal at 8 weeks but was low by 20 weeks (J:49871)
• weight gain improved when animals were forced to exercised (J:57664)

homeostasis/metabolism
• elevated serum creatine kinase levels at 2 weeks to as much as 240X by 8 weeks of age (J:49871)
• levels of serum creatine kinase improved in animals forced to exercise (J:57664)

muscle
N
• not susceptible to contraction induced injury (J:57664)
• diaphragm muscle hypertrophied and opaque
• although thickened, the diaphragm contains no more or larger myofibers
• severe dystrophic changes seen
• variable fiber size
• inflammatory infiltrate
• abnormal calcification with fatty and fibrouse replacement
• changes seen in the quadriceps, and gastrocnemius where degenerate and intact muscle segments are juxtaposed in additon to the diaphragm

Mouse Models of Human Disease
OMIM IDRef(s)
Muscular Dystrophy, Limb-Girdle, Type 2c; LGMD2C 253700 J:49871 , J:57664 , J:88456


Mouse Genome Informatics
cx2
    Ltbp4dmod1-129T2/SvEmsJ/Ltbp4dmod1-129T2/SvEmsJ
Sgcgtm1Mcn/Sgcgtm1Mcn

129T2.Cg-Ltbp4dmod1-129T2/SvEmsJ Sgcgtm1Mcn
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
muscle
• Background Sensitivity: null mice on the 129T2/SvEmsJ background have less hydroxyproline content, a reflection of the degree of fibrosis, than null mice on the DBA/2J background
• Background Sensitivity: null mice on the 129T2/SvEmsJ background have less muscle membrane leakage, as measured by Evans Dye leakage, than null mice on the DBA/2J background

behavior/neurological
• Background Sensitivity: null mice in the 129T2/SvEmsJ background are stronger than null mice in the DBA/2J background

homeostasis/metabolism
• Background Sensitivity: null mice on the 129T2/SvEmsJ background have less hydroxyproline content, a reflection of the degree of fibrosis, than null mice on the DBA/2J background


Mouse Genome Informatics
cx3
    Ltbp4dmod1-DBA/2J/Ltbp4dmod1-DBA/2J
Sgcgtm1Mcn/Sgcgtm1Mcn

D2.Cg-Ltbp4dmod1-DBA/2J Sgcgtm1Mcn
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
muscle
• Background Sensitivity: null mice on the DBA/2J background have less hydroxyproline content, a reflection of the degree of fibrosis, than null mice on the 129T2/SvEmsJ background
• Background Sensitivity: null mice on the DBA/2J background have greater muscle membrane leakage, as measured by Evans Dye leakage, than null mice on the 129T2/SvEmsJ background

behavior/neurological
• Background Sensitivity: null mice in the DBA/2J background are weaker than null mice in the 129T2/SvEmsJ background

homeostasis/metabolism
• Background Sensitivity: null mice on the DBA/2J background have less hydroxyproline content, a reflection of the degree of fibrosis, than null mice on the 129T2/SvEmsJ background


Mouse Genome Informatics
cx4
    Itga7tm1Umr/Itga7tm1Umr
Sgcgtm1Mcn/Sgcgtm1Mcn

involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• average life span 21 days
• nearly all dead by 25 days of age

behavior/neurological
• little or no grooming behavior
• display a "hopping" gait
• reduced mobility

muscle
• severe skeletal muscle degeneration, widespread rather than focal
• ongoing necrosis accompanied by regeneration

growth/size/body
• smaller size than controls
• weighed half as much as controls by 25 days of age

skeleton

cellular
• enhance muscle cell membrane permeability