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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 (1 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 (J:49871)
• about 50% were dead by 5 months of age, 10% died by 3 weeks (J:49871)

behavior/neurological
N
• responded well in swimming tests at 7 weeks of age (J:57664)
• baseline activity levels improved after exercise (J:57664)
• 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 (J:49871)
• slow to initiate walking or running activity from a sitting position (J:49871)
• less activity in general but particularly climbing and burrowing (J:49871)
• slow to initiate walking or running activity from a sitting position (J:49871)
• stiff walking gait with widened hind-leg spacing (J:49871)
• stiff walking gait with widened hind-leg spacing (J:49871)

cardiovascular system
• heart mass is reduced but heart to body weight ratio is increased due to smaller body size (J:49871)
• heart mass is reduced but heart to body weight ratio is increased due to smaller body size (J:49871)
• fibrosis is present in ventricles (J:49871)
• fibrosis is present in ventricles (J:49871)
• right and left ventricular walls are thickened by 20 weeks of age and the ventricular cavities nearly obliterated (J:49871)
• right and left ventricular walls are thickened by 20 weeks of age and the ventricular cavities nearly obliterated (J:49871)
• microvascular filling defects are seen involving coronary arteries (J:88456)
• coronary vasospasms increase with exercise (J:88456)
• microvascular filling defects are seen involving coronary arteries (J:88456)
• coronary vasospasms increase with exercise (J:88456)

growth/size/body
• body weight was normal at 8 weeks but was low by 20 weeks (J:49871)
• 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)
• 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)
• 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)
• levels of serum creatine kinase improved in animals forced to exercise (J:57664)

muscle
N
• not susceptible to contraction induced injury (J:57664)
• not susceptible to contraction induced injury (J:57664)
• diaphragm muscle hypertrophied and opaque (J:49871)
• diaphragm muscle hypertrophied and opaque (J:49871)
• although thickened, the diaphragm contains no more or larger myofibers (J:49871)
• although thickened, the diaphragm contains no more or larger myofibers (J:49871)
• severe dystrophic changes seen (J:49871)
• variable fiber size (J:49871)
• inflammatory infiltrate (J:49871)
• abnormal calcification with fatty and fibrouse replacement (J:49871)
• changes seen in the quadriceps, and gastrocnemius where degenerate and intact muscle segments are juxtaposed in additon to the diaphragm (J:49871)
• severe dystrophic changes seen (J:49871)
• variable fiber size (J:49871)
• inflammatory infiltrate (J:49871)
• abnormal calcification with fatty and fibrouse replacement (J:49871)
• changes seen in the quadriceps, and gastrocnemius where degenerate and intact muscle segments are juxtaposed in additon to the diaphragm (J:49871)

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 (73 available)
Sgcgtm1Mcn mutation (0 available); any Sgcg mutation (1 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 (J:155107)
• 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 (J:155107)
• 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 (J:155107)
• 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 (J:155107)

behavior/neurological
• Background Sensitivity: null mice in the 129T2/SvEmsJ background are stronger than null mice in the DBA/2J background (J:155107)
• Background Sensitivity: null mice in the 129T2/SvEmsJ background are stronger than null mice in the DBA/2J background (J:155107)




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 (73 available)
Sgcgtm1Mcn mutation (0 available); any Sgcg mutation (1 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 (J:155107)
• 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 (J:155107)
• 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 (J:155107)
• 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 (J:155107)

behavior/neurological
• Background Sensitivity: null mice in the DBA/2J background are weaker than null mice in the 129T2/SvEmsJ background (J:155107)
• Background Sensitivity: null mice in the DBA/2J background are weaker than null mice in the 129T2/SvEmsJ background (J:155107)




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 (2 available)
Sgcgtm1Mcn mutation (0 available); any Sgcg mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• average life span 21 days (J:91880)
• nearly all dead by 25 days of age (J:91880)
• average life span 21 days (J:91880)
• nearly all dead by 25 days of age (J:91880)

behavior/neurological
• little or no grooming behavior (J:91880)
• little or no grooming behavior (J:91880)
• display a "hopping" gait (J:91880)
• display a "hopping" gait (J:91880)
• reduced mobility (J:91880)
• reduced mobility (J:91880)

muscle
• severe skeletal muscle degeneration, widespread rather than focal (J:91880)
• ongoing necrosis accompanied by regeneration (J:91880)
• severe skeletal muscle degeneration, widespread rather than focal (J:91880)
• ongoing necrosis accompanied by regeneration (J:91880)

growth/size/body
• smaller size than controls (J:91880)
• weighed half as much as controls by 25 days of age (J:91880)
• smaller size than controls (J:91880)
• weighed half as much as controls by 25 days of age (J:91880)

skeleton

cellular
• enhance muscle cell membrane permeability (J:91880)
• enhance muscle cell membrane permeability (J:91880)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory