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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sgcgtm1Mcn
targeted mutation 1, Elizabeth M McNally
MGI:2154693
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sgcgtm1Mcn/Sgcgtm1Mcn involves: 129X1/SvJ * C57BL/6 MGI:3037288
cx2
Ltbp4dmod1-129T2/SvEmsJ/Ltbp4dmod1-129T2/SvEmsJ
Sgcgtm1Mcn/Sgcgtm1Mcn
129T2.Cg-Ltbp4dmod1-129T2/SvEmsJ Sgcgtm1Mcn MGI:4414766
cx3
Ltbp4dmod1-DBA/2J/Ltbp4dmod1-DBA/2J
Sgcgtm1Mcn/Sgcgtm1Mcn
D2.Cg-Ltbp4dmod1-DBA/2J Sgcgtm1Mcn MGI:4414767
cx4
Itga7tm1Umr/Itga7tm1Umr
Sgcgtm1Mcn/Sgcgtm1Mcn
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3583814


Genotype
MGI:3037288
hm1
Allelic
Composition
Sgcgtm1Mcn/Sgcgtm1Mcn
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sgcgtm1Mcn mutation (0 available); any Sgcg mutation (10 available)
phenotype observed in females
phenotype observed in males
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
• baseline activity levels improved after exercise
• 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
• 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 ID Ref(s)
Muscular Dystrophy, Limb-Girdle, Type 2c; LGMD2C 253700 J:49871 , J:57664 , J:88456




Genotype
MGI:4414766
cx2
Allelic
Composition
Ltbp4dmod1-129T2/SvEmsJ/Ltbp4dmod1-129T2/SvEmsJ
Sgcgtm1Mcn/Sgcgtm1Mcn
Genetic
Background
129T2.Cg-Ltbp4dmod1-129T2/SvEmsJ Sgcgtm1Mcn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ltbp4dmod1-129T2/SvEmsJ mutation (0 available); any Ltbp4 mutation (95 available)
Sgcgtm1Mcn mutation (0 available); any Sgcg mutation (10 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:4414767
cx3
Allelic
Composition
Ltbp4dmod1-DBA/2J/Ltbp4dmod1-DBA/2J
Sgcgtm1Mcn/Sgcgtm1Mcn
Genetic
Background
D2.Cg-Ltbp4dmod1-DBA/2J Sgcgtm1Mcn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ltbp4dmod1-DBA/2J mutation (0 available); any Ltbp4 mutation (95 available)
Sgcgtm1Mcn mutation (0 available); any Sgcg mutation (10 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:3583814
cx4
Allelic
Composition
Itga7tm1Umr/Itga7tm1Umr
Sgcgtm1Mcn/Sgcgtm1Mcn
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itga7tm1Umr mutation (0 available); any Itga7 mutation (9 available)
Sgcgtm1Mcn mutation (0 available); any Sgcg mutation (10 available)
phenotype observed in females
phenotype observed in males
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





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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory