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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Myl1tm1(cre)Sjb
targeted mutation 1, Steven J Burden
MGI:1931135
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Myl1tm1(cre)Sjb/Myl1+
Shc1tm9Paw/Shc1tm9Paw
involves: 129S1/Sv * 129X1/SvJ MGI:3717102
cn2
Myl1tm1(cre)Sjb/Myl1+
Shc1tm3Paw/Shc1tm9Paw
involves: 129S1/Sv * 129X1/SvJ MGI:3717104
cn3
Myl1tm1(cre)Sjb/Myl1+
Shc1tm4Paw/Shc1tm9Paw
involves: 129S1/Sv * 129X1/SvJ MGI:3717105
cn4
Myl1tm1(cre)Sjb/Myl1+
Shc1tm7Paw/Shc1tm9Paw
involves: 129S1/Sv * 129X1/SvJ MGI:3717106
cn5
Myl1tm1(cre)Sjb/Myl1+
Tfamtm1Lrsn/Tfamtm1Lrsn
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:2450161
cn6
Cox10tm1Ctm/Cox10tm1Ctm
Myl1tm1(cre)Sjb/Myl1+
involves: 129X1/SvJ * C57BL/6 MGI:3609951


Genotype
MGI:3717102
cn1
Allelic
Composition
Myl1tm1(cre)Sjb/Myl1+
Shc1tm9Paw/Shc1tm9Paw
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1tm1(cre)Sjb mutation (1 available); any Myl1 mutation (5 available)
Shc1tm9Paw mutation (0 available); any Shc1 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• all viable mice are severely uncoordinated, appearing similar to Shc1tm4Paw homozygotes

nervous system
• between P22 and P35, muscle spindle numbers are reduced 50% compared to controls
• intrafusal fiber numbers are 59% that of controls

muscle
• between P22 and P35, muscle spindle numbers are reduced 50% compared to controls
• intrafusal fiber numbers are 59% that of controls




Genotype
MGI:3717104
cn2
Allelic
Composition
Myl1tm1(cre)Sjb/Myl1+
Shc1tm3Paw/Shc1tm9Paw
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1tm1(cre)Sjb mutation (1 available); any Myl1 mutation (5 available)
Shc1tm3Paw mutation (0 available); any Shc1 mutation (54 available)
Shc1tm9Paw mutation (0 available); any Shc1 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• motor abnormalities are similar to those observed in Shc1tm7Paw homozygotes

nervous system
• between P22 and P35, muscle spindle and intrafusal fiber numbers are reduced compared to controls

muscle
• between P22 and P35, muscle spindle and intrafusal fiber numbers are reduced compared to controls




Genotype
MGI:3717105
cn3
Allelic
Composition
Myl1tm1(cre)Sjb/Myl1+
Shc1tm4Paw/Shc1tm9Paw
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1tm1(cre)Sjb mutation (1 available); any Myl1 mutation (5 available)
Shc1tm4Paw mutation (0 available); any Shc1 mutation (54 available)
Shc1tm9Paw mutation (0 available); any Shc1 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• motor abnormalities are less severe, similar to those observed in Shc1tm4Paw homozygotes

muscle
• between P22 and P35, intrafusal fiber numbers are reduced compared to controls

nervous system
• between P22 and P35, intrafusal fiber numbers are reduced compared to controls




Genotype
MGI:3717106
cn4
Allelic
Composition
Myl1tm1(cre)Sjb/Myl1+
Shc1tm7Paw/Shc1tm9Paw
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1tm1(cre)Sjb mutation (1 available); any Myl1 mutation (5 available)
Shc1tm7Paw mutation (0 available); any Shc1 mutation (54 available)
Shc1tm9Paw mutation (0 available); any Shc1 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• motor abnormalities are similar to those observed in Shc1tm7Paw homozygotes

muscle
• between P22 and P35, muscle spindle and intrafusal fiber numbers are reduced compared to controls

nervous system
• between P22 and P35, muscle spindle and intrafusal fiber numbers are reduced compared to controls




Genotype
MGI:2450161
cn5
Allelic
Composition
Myl1tm1(cre)Sjb/Myl1+
Tfamtm1Lrsn/Tfamtm1Lrsn
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1tm1(cre)Sjb mutation (1 available); any Myl1 mutation (5 available)
Tfamtm1Lrsn mutation (0 available); any Tfam mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal muscle analysis of Tfamtm1Lrsn/Tfamtm1Lrsn Myl1tm1(cre)Sjb/Myl1+ mice

mortality/aging
• death occurs at 4-5 months of age

muscle
• increased muscle fiber size containing enlarged mitochondria with distorted cristae
• shorter contraction times and shorter twitch-relaxation times
• decreased absolute muscle force

cellular
• respiratory chain dysfunction in skeletal muscle

behavior/neurological
• from 3-4 months of age

growth/size/body
• beginning at 4-5 months of age




Genotype
MGI:3609951
cn6
Allelic
Composition
Cox10tm1Ctm/Cox10tm1Ctm
Myl1tm1(cre)Sjb/Myl1+
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cox10tm1Ctm mutation (1 available); any Cox10 mutation (7 available)
Myl1tm1(cre)Sjb mutation (1 available); any Myl1 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutant mice have a shorter life span
• females died younger than males

muscle
• showed areas of mitochondrial proliferation and markedly enlarged and swollen mitochondria
• no signs of fibrosis, inflammation, or apoptosis were seen
• mutant muscle fibers are more heterogeneous in size
• at 3-4 months of age, severe reductions in muscle mass are seen
• maximal force evoked in mutant muscle is significantly smaller
• the muscles from mutant mice are more fatigable than control
• mutant mice are healthy until approximately 3 months of age then develop a slowly progressive myopathy
• the myopathy starts earlier and worsens quicker in female

growth/size/body
• at 3-4 months of age, they started to lose weight
• female mutant mice weigh less at an early age

skeleton
• starting at 3-4 months of age

behavior/neurological
• starting at 3-4 months of age
• in treadmill performance test, 2-month old mutant mice had difficulty in performing the task
• the female performance was significantly poorer than males

Mouse Models of Human Disease
OMIM ID Ref(s)
Mitochondrial Myopathy 251900 J:101747





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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory