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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 12 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Atad3atm1c(KOMP)Wtsi/Atad3atm1c(KOMP)Wtsi
Myl1tm1(cre)Sjb/Myl1+
B6J.Cg-Myl1tm1(cre)Sjb Atad3atm1c(KOMP)Wtsi MGI:6197947
cn2
Hprttm1(CAG-Gys1*)Jjg/?
Myl1tm1(cre)Sjb/Myl1+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ MGI:6273838
cn3
Myl1tm1(cre)Sjb/0
Ndufab1tm1Xiwa/Ndufab1tm1Xiwa
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 MGI:6476948
cn4
Myl1tm1(cre)Sjb/Myl1+
Shc1tm7Paw/Shc1tm9Paw
involves: 129S1/Sv * 129X1/SvJ MGI:3717106
cn5
Myl1tm1(cre)Sjb/Myl1+
Shc1tm3Paw/Shc1tm9Paw
involves: 129S1/Sv * 129X1/SvJ MGI:3717104
cn6
Myl1tm1(cre)Sjb/Myl1+
Shc1tm9Paw/Shc1tm9Paw
involves: 129S1/Sv * 129X1/SvJ MGI:3717102
cn7
Myl1tm1(cre)Sjb/Myl1+
Shc1tm4Paw/Shc1tm9Paw
involves: 129S1/Sv * 129X1/SvJ MGI:3717105
cn8
Myl1tm1(cre)Sjb/Myl1+
Tfamtm1Lrsn/Tfamtm1Lrsn
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:2450161
cn9
Myl1tm1(cre)Sjb/Myl1+
Smarcd3tm1Jddl/Smarcd3tm1Jddl
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:6367830
cn10
Trp53inp2tm1Azo/Trp53inp2tm1Azo
Myl1tm1(cre)Sjb/Myl1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:6279199
cn11
Ralgapa1tm2c(KOMP)Wtsi/Ralgapa1tm2c(KOMP)Wtsi
Myl1tm1(cre)Sjb/Myl1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N MGI:6456689
cn12
Cox10tm1Ctm/Cox10tm1Ctm
Myl1tm1(cre)Sjb/Myl1+
involves: 129X1/SvJ * C57BL/6 MGI:3609951


Genotype
MGI:6197947
cn1
Allelic
Composition
Atad3atm1c(KOMP)Wtsi/Atad3atm1c(KOMP)Wtsi
Myl1tm1(cre)Sjb/Myl1+
Genetic
Background
B6J.Cg-Myl1tm1(cre)Sjb Atad3atm1c(KOMP)Wtsi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atad3atm1c(KOMP)Wtsi mutation (0 available); any Atad3a mutation (17 available)
Myl1tm1(cre)Sjb mutation (1 available); any Myl1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• clear matrix areas, electron-dense inclusions, fragmentation and degeneration in tibialis anterior muscle fibers at age 5 months
• drastically reduced mitochondrial mass in focal areas of skeletal muscle fibers
• increased subsarcolemmal mitochondrial proliferation in some muscle fibers
• 30% reduction at age 5-6 months, 55% at 12 months and 45% at 18 months in skeletal muscle
• high level of age-related deletions in skeletal muscle at ages 12 months and 18 months
• high level of age-related rearrangements in skeletal muscle at age 20 months
• mostly oriented parallel to outer membrane, sometimes forming concentric circles in tibialis anterior muscle fibers at age 2 and 5 months
• reduced cristae surface per mitochondrion in tibialis anterior muscle fibers at age 2 months
• lamellar structure in tibialis anterior muscle fibers at age 2 months
• loss of lamellar structure with predominant circular structures in tibialis anterior muscle fibers at age 5 months
• 60% reduction in number of cristae junctions (contact with outer membrane) in tibialis anterior muscle fibers at age 2 months
• mostly oriented parallel to outer membrane, sometimes forming concentric circles in tibialis anterior muscle fibers at ages 2 and 5 months
• in tibialis anterior muscle fibers at age 5 months
• 50% reduction in steady-state levels of complex I (Ndufb8) and complex V (Atp5a1) markers in skeletal muscle from age 3 months
• reduction in levels of complex IV marker mt-Co1 in skeletal muscle from age 5 months
• steady-state levels of complex II (Sdha) and complex III (Uqcrc1) markers in skeletal muscle

muscle
• significantly lower cross-sectional area at age 5 months
• pale cores lacking cytochrome c oxidase and succinate dehydrogenase activity (suggesting lack of mitochondria); small single cores at age 5 months, larger and/or multiple cores at age 18 months
• increased subsarcolemmal cytochrome c oxidase and succinate dehydrogenase activity (suggesting increased number of mitochondria) in some fibers
• increased empty spaces between fibers at age 18 months
• reduced quadriceps, gastrocnemius and tibialis anterior muscle weight as percentage of body weight from age 5 months (J:263681)
• gastrocnemius and tibialis anterior at age 18 months (J:263681)

behavior/neurological
• stay on a progressively accelerating cylinder for shorter time in rotarod test
• reduced maximum grip strength in forelimbs at age 6 months with no further worsening
• activity on treadmill at age 2 months
• increase in falling frequency on treadmill from age 3 months
• decreased travelling distance, ambulatory counts and increased resting time in open field test from age 6 months

homeostasis/metabolism
• lipid composition in skeletal muscle at age 2 months
• decreased levels of cholesterol esters (CEs) synthesized in ER and increased levels of CEs obtained from diet in skeletal muscle at age 5 months
• reduced level of total CEs versus free cholesterol in skeletal muscle at age 5 months

skeleton
• at age 6 months

growth/size/body
N
• weight at birth
• daily food intake at age 5 months
• heart weight at ages 5 months and 12 months
• from age 5 months (J:263681)
• from age 2 months (J:263681)




Genotype
MGI:6273838
cn2
Allelic
Composition
Hprttm1(CAG-Gys1*)Jjg/?
Myl1tm1(cre)Sjb/Myl1+
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprttm1(CAG-Gys1*)Jjg mutation (0 available); any Hprt mutation (1274 available)
Myl1tm1(cre)Sjb mutation (1 available); any Myl1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• in spite of increased skeletal muscle glycogen level, mice reach exhaustion earlier than wild-type controls in a treadmill endurance test
• mice cover a shorter distance than wild-type controls in a treadmill endurance test
• under resting conditions, adult mice show a 7-fold increase in skeletal muscle glycogen level relative to wild-type controls
• at the point of exhaustion following treadmill exercise, mice show a greater reduction of glycogen content in skeletal muscle than wild-type controls

muscle
• under resting conditions, adult mice show a 7-fold increase in skeletal muscle glycogen level relative to wild-type controls

behavior/neurological
• in spite of increased skeletal muscle glycogen level, mice reach exhaustion earlier than wild-type controls in a treadmill endurance test
• mice cover a shorter distance than wild-type controls in a treadmill endurance test

cellular
• adult soleus muscle exhibits lower oxygen consumption affecting all mitochondrial states relative to wild-type muscle




Genotype
MGI:6476948
cn3
Allelic
Composition
Myl1tm1(cre)Sjb/0
Ndufab1tm1Xiwa/Ndufab1tm1Xiwa
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 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 (8 available)
Ndufab1tm1Xiwa mutation (0 available); any Ndufab1 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
N
• normal blood triglyceride, cholesterol and lactate levels
• 50% of normal level at age P3
• 41% of normal level at age P3

growth/size/body
• small body size at birth

muscle
N
• normal muscle morphology in newborns

liver/biliary system

mortality/aging
• early death within 5 postnatal days

cellular
• disrupted cristae and larger mitochondrial volumes devoid of cristae in skeletal muscle




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 (8 available)
Shc1tm7Paw mutation (0 available); any Shc1 mutation (59 available)
Shc1tm9Paw mutation (0 available); any Shc1 mutation (59 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:3717104
cn5
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 (8 available)
Shc1tm3Paw mutation (0 available); any Shc1 mutation (59 available)
Shc1tm9Paw mutation (0 available); any Shc1 mutation (59 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:3717102
cn6
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 (8 available)
Shc1tm9Paw mutation (0 available); any Shc1 mutation (59 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:3717105
cn7
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 (8 available)
Shc1tm4Paw mutation (0 available); any Shc1 mutation (59 available)
Shc1tm9Paw mutation (0 available); any Shc1 mutation (59 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:2450161
cn8
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 (8 available)
Tfamtm1Lrsn mutation (1 available); any Tfam mutation (11 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:6367830
cn9
Allelic
Composition
Myl1tm1(cre)Sjb/Myl1+
Smarcd3tm1Jddl/Smarcd3tm1Jddl
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1tm1(cre)Sjb mutation (1 available); any Myl1 mutation (8 available)
Smarcd3tm1Jddl mutation (1 available); any Smarcd3 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mice exhibit elevated postprandial blood glucose after refeeding
• streptozotocin-treated mice have higher blood glucose levels than controls despite similarly low levels of plasma insulin
• high fat diet fed and streptozotocin-treated mice show an attenuated effect of the sufonylurea drug glibenclamide on blood glucose levels
• glucose tolerance test indicates that high fat diet-fed mice are more glucose intolerant than controls
• streptozotocin-treated mice are more glucose-intolerant and develop more severe postprandial hyperglycemia following refeeding
• however, plasma insulin concentrations during glucose tolerance test are similar to controls
• insulin tolerance test indicates that high fat diet-fed mice are more insulin resistant than controls
• streptozotocin-treated mice are more insulin-resistant

muscle
• glucose-induced lactate production in plantaris, EDL, and soleus muscles cultured ex vivo is impaired
• however, muscle mass, endurance exercise capacity and muscle development are unaffected

growth/size/body
N
• chow-fed mice exhibit normal body weight and muscle mass




Genotype
MGI:6279199
cn10
Allelic
Composition
Trp53inp2tm1Azo/Trp53inp2tm1Azo
Myl1tm1(cre)Sjb/Myl1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1tm1(cre)Sjb mutation (1 available); any Myl1 mutation (8 available)
Trp53inp2tm1Azo mutation (0 available); any Trp53inp2 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• mice show increased levels of LC3I and LC3II and mice treated with chloroquine to inhibit lysosomal protein degradation show a lower accumulatio of LC3II indicating reduced autophagy flux in muscle
• streptozotocin-treated mice show a blunted reduction in LC3I levels indicating reduced autophagy

growth/size/body
• increase in lean tissue volume

homeostasis/metabolism
N
• 4 month old mice show no difference in glycemia and they respond normally in a glucose tolerance test
• mice show increased levels of LC3I and LC3II and mice treated with chloroquine to inhibit lysosomal protein degradation show a lower accumulatio of LC3II indicating reduced autophagy flux in muscle
• streptozotocin-treated mice show a blunted reduction in LC3I levels indicating reduced autophagy
• streptozotocin-treated mice show less muscle loss and a blunted reduction in LC3I levels indicating reduced autophagy
• however, mice show no differences from wild-type mice in the regeneration of cardiotoxin-induced muscle damage

muscle
• mice show less muscle loss upon induction of diabetes with streptozotocin than wild-type mice indicating partial protection of muscle wasting induced by diabetes
• increase in cross-sectional area of muscle fibers, with an increase in area of type IIb, IIx, and IIa myofibers from tibialis anterior muscles
• however, no histological abnormalities or changes in fiber-type composition are seen and mitochondrial content and functionality are normal in myofibers
• mice show increased tibialis anterior, gastrocnemius, and quadriceps muscle weights
• however, no changes in body weight or food intake are seen




Genotype
MGI:6456689
cn11
Allelic
Composition
Ralgapa1tm2c(KOMP)Wtsi/Ralgapa1tm2c(KOMP)Wtsi
Myl1tm1(cre)Sjb/Myl1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1tm1(cre)Sjb mutation (1 available); any Myl1 mutation (8 available)
Ralgapa1tm2c(KOMP)Wtsi mutation (0 available); any Ralgapa1 mutation (97 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• when fed a high-fat diet, but not standard chow
• when fed standard chow or a high-fat diet
• mice fed olive oil exhibit improved ability to control blood lipids compared with control mice
• when fed standard chow or a high-fat diet
• when fed a high-fat diet, but not standard chow
• when fed standard chow or a high-fat diet

muscle

cellular




Genotype
MGI:3609951
cn12
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 (12 available)
Myl1tm1(cre)Sjb mutation (1 available); any Myl1 mutation (8 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
DO ID OMIM ID(s) Ref(s)
mitochondrial myopathy DOID:699 OMIM:251900
J:101747





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last database update
01/12/2022
MGI 6.17
The Jackson Laboratory