All Phenotypes Myl1<tm1(cre)Sjb> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Myl1^tm1(cre)Sjb
targeted mutation 1, Steven J Burden
MGI:1931135

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Atad3a^{tm1c(KOMP)Wtsi}/Atad3a^{tm1c(KOMP)Wtsi} Myl1^tm1(cre)Sjb/Myl1⁺	B6J.Cg-Myl1^tm1(cre)Sjb Atad3a^{tm1c(KOMP)Wtsi}	MGI:6197947
cn2	Hprt1^{tm1(CAG-Gys1*)Jjg}/? Myl1^tm1(cre)Sjb/Myl1⁺	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ	MGI:6273838
cn3	Myl1^tm1(cre)Sjb/0 Ndufab1^tm1Xiwa/Ndufab1^tm1Xiwa	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:6476948
cn4	Myl1^tm1(cre)Sjb/Myl1⁺ Shc1^tm7Paw/Shc1^tm9Paw	involves: 129S1/Sv * 129X1/SvJ	MGI:3717106
cn5	Myl1^tm1(cre)Sjb/Myl1⁺ Shc1^tm3Paw/Shc1^tm9Paw	involves: 129S1/Sv * 129X1/SvJ	MGI:3717104
cn6	Myl1^tm1(cre)Sjb/Myl1⁺ Shc1^tm9Paw/Shc1^tm9Paw	involves: 129S1/Sv * 129X1/SvJ	MGI:3717102
cn7	Myl1^tm1(cre)Sjb/Myl1⁺ Shc1^tm4Paw/Shc1^tm9Paw	involves: 129S1/Sv * 129X1/SvJ	MGI:3717105
cn8	Myl1^tm1(cre)Sjb/Myl1⁺ Tfam^tm1Lrsn/Tfam^tm1Lrsn	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2450161
cn9	Trp53inp2^tm1Azo/Trp53inp2^tm1Azo Myl1^tm1(cre)Sjb/Myl1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:6279199
cn10	Myl1^tm1(cre)Sjb/Myl1⁺ Smarcd3^tm1Jddl/Smarcd3^tm1Jddl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:6367830
cn11	Ralgapa1^{tm2c(KOMP)Wtsi}/Ralgapa1^{tm2c(KOMP)Wtsi} Myl1^tm1(cre)Sjb/Myl1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N	MGI:6456689
cn12	Cox10^tm1Ctm/Cox10^tm1Ctm Myl1^tm1(cre)Sjb/Myl1⁺	involves: 129X1/SvJ * C57BL/6	MGI:3609951

Allelic Composition	Atad3a^{tm1c(KOMP)Wtsi}/Atad3a^{tm1c(KOMP)Wtsi} Myl1^tm1(cre)Sjb/Myl1⁺
Genetic Background	B6J.Cg-Myl1^tm1(cre)Sjb Atad3a^{tm1c(KOMP)Wtsi}

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atad3a^{tm1c(KOMP)Wtsi} mutation (0 available); any Atad3a mutation (30 available)
Myl1^tm1(cre)Sjb mutation (2 available); any Myl1 mutation (17 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cellular

abnormal mitochondrial crista morphology ( J:263681 )

• 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

disorganized mitochondrial cristae ( J:263681 )

• 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

abnormal muscle fiber mitochondrial morphology ( J:263681 )

• 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

decreased skeletal muscle fiber mitochondrial DNA content ( J:263681 )

• 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

decreased mitochondrial size ( J:263681 )

• in tibialis anterior muscle fibers at age 5 months

abnormal oxidative phosphorylation ( J:263681 )

• 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

abnormal muscle fiber morphology ( J:263681 )

• 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

abnormal muscle fiber mitochondrial morphology ( J:263681 )

• 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

decreased skeletal muscle fiber mitochondrial DNA content ( J:263681 )

• 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

skeletal muscle fiber atrophy ( J:263681 )

• increased empty spaces between fibers at age 18 months

skeletal muscle fiber degeneration ( J:263681 )

• at age 18 months

decreased skeletal muscle weight ( J:263681 , J:263681 )

	• 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

abnormal motor coordination/balance ( J:263681 )

• stay on a progressively accelerating cylinder for shorter time in rotarod test

decreased grip strength ( J:263681 )

• reduced maximum grip strength in forelimbs at age 6 months with no further worsening

weakness ( J:263681 )

• activity on treadmill at age 2 months

• increase in falling frequency on treadmill from age 3 months

decreased locomotor activity ( J:263681 )

• decreased travelling distance, ambulatory counts and increased resting time in open field test from age 6 months

homeostasis/metabolism

abnormal cholesterol homeostasis ( J:263681 )

• 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

kyphosis ( J:263681 )

• at age 6 months

growth/size/body

growth/size/body region phenotype ( J:263681 )

N	• weight at birth • daily food intake at age 5 months • heart weight at ages 5 months and 12 months

cachexia ( J:263681 , J:263681 )

	• from age 5 months (J:263681)
	• from age 2 months (J:263681)

Allelic Composition	Hprt1^{tm1(CAG-Gys1*)Jjg}/? Myl1^tm1(cre)Sjb/Myl1⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1^{tm1(CAG-Gys1*)Jjg} mutation (0 available); any Hprt1 mutation (1273 available)
Myl1^tm1(cre)Sjb mutation (2 available); any Myl1 mutation (17 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

impaired exercise endurance ( J:244440 )

• in spite of increased skeletal muscle glycogen level, mice reach exhaustion earlier than wild-type controls in a treadmill endurance test

decreased aerobic running capacity ( J:244440 )

• mice cover a shorter distance than wild-type controls in a treadmill endurance test

increased skeletal muscle glycogen level ( J:244440 )

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

abnormal response to exercise ( J:244440 )

• at the point of exhaustion following treadmill exercise, mice show a greater reduction of glycogen content in skeletal muscle than wild-type controls

muscle

increased skeletal muscle glycogen level ( J:244440 )

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

behavior/neurological

impaired exercise endurance ( J:244440 )

• in spite of increased skeletal muscle glycogen level, mice reach exhaustion earlier than wild-type controls in a treadmill endurance test

decreased aerobic running capacity ( J:244440 )

• mice cover a shorter distance than wild-type controls in a treadmill endurance test

cellular

abnormal cellular respiration ( J:244440 )

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

Allelic Composition	Myl1^tm1(cre)Sjb/0 Ndufab1^tm1Xiwa/Ndufab1^tm1Xiwa
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1^tm1(cre)Sjb mutation (2 available); any Myl1 mutation (17 available)
Ndufab1^tm1Xiwa mutation (0 available); any Ndufab1 mutation (8 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:293657 )

N	• normal blood triglyceride, cholesterol and lactate levels

hypoglycemia ( J:293657 )

• 50% of normal level at age P3

decreased circulating insulin level ( J:293657 )

• 41% of normal level at age P3

decreased liver glycogen level ( J:293657 )

• at age P3

decreased skeletal muscle glycogen level ( J:293657 )

• at age P3

growth/size/body

decreased body size ( J:293657 )

• small body size at birth

postnatal growth retardation ( J:293657 )

muscle

muscle phenotype ( J:293657 )

N	• normal muscle morphology in newborns

decreased skeletal muscle glycogen level ( J:293657 )

• at age P3

liver/biliary system

decreased liver glycogen level ( J:293657 )

• at age P3

mortality/aging

preweaning lethality, complete penetrance ( J:293657 )

• early death within 5 postnatal days

cellular

disorganized mitochondrial cristae ( J:293657 )

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

Allelic Composition	Myl1^tm1(cre)Sjb/Myl1⁺ Shc1^tm7Paw/Shc1^tm9Paw
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1^tm1(cre)Sjb mutation (2 available); any Myl1 mutation (17 available)
Shc1^tm7Paw mutation (0 available); any Shc1 mutation (66 available)
Shc1^tm9Paw mutation (0 available); any Shc1 mutation (66 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

abnormal locomotor coordination ( J:122927 )

• motor abnormalities are similar to those observed in Shc1^tm7Paw homozygotes

ataxia ( J:122927 )

impaired limb coordination ( J:122927 )

muscle

decreased muscle spindle number ( J:122927 )

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

nervous system

decreased muscle spindle number ( J:122927 )

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

Allelic Composition	Myl1^tm1(cre)Sjb/Myl1⁺ Shc1^tm3Paw/Shc1^tm9Paw
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1^tm1(cre)Sjb mutation (2 available); any Myl1 mutation (17 available)
Shc1^tm3Paw mutation (0 available); any Shc1 mutation (66 available)
Shc1^tm9Paw mutation (0 available); any Shc1 mutation (66 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

abnormal locomotor coordination ( J:122927 )

• motor abnormalities are similar to those observed in Shc1^tm7Paw homozygotes

impaired limb coordination ( J:122927 )

nervous system

decreased muscle spindle number ( J:122927 )

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

muscle

decreased muscle spindle number ( J:122927 )

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

Allelic Composition	Myl1^tm1(cre)Sjb/Myl1⁺ Shc1^tm9Paw/Shc1^tm9Paw
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1^tm1(cre)Sjb mutation (2 available); any Myl1 mutation (17 available)
Shc1^tm9Paw mutation (0 available); any Shc1 mutation (66 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

abnormal locomotor coordination ( J:122927 )

• all viable mice are severely uncoordinated, appearing similar to Shc1^tm4Paw homozygotes

ataxia ( J:122927 )

impaired limb coordination ( J:122927 )

nervous system

decreased muscle spindle number ( J:122927 )

• between P22 and P35, muscle spindle numbers are reduced 50% compared to controls

• intrafusal fiber numbers are 59% that of controls

muscle

decreased muscle spindle number ( J:122927 )

• between P22 and P35, muscle spindle numbers are reduced 50% compared to controls

• intrafusal fiber numbers are 59% that of controls

Allelic Composition	Myl1^tm1(cre)Sjb/Myl1⁺ Shc1^tm4Paw/Shc1^tm9Paw
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1^tm1(cre)Sjb mutation (2 available); any Myl1 mutation (17 available)
Shc1^tm4Paw mutation (0 available); any Shc1 mutation (66 available)
Shc1^tm9Paw mutation (0 available); any Shc1 mutation (66 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

abnormal locomotor coordination ( J:122927 )

• motor abnormalities are less severe, similar to those observed in Shc1^tm4Paw homozygotes

ataxia ( J:122927 )

muscle

abnormal muscle spindle morphology ( J:122927 )

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

nervous system

abnormal muscle spindle morphology ( J:122927 )

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

Allelic Composition	Myl1^tm1(cre)Sjb/Myl1⁺ Tfam^tm1Lrsn/Tfam^tm1Lrsn
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1^tm1(cre)Sjb mutation (2 available); any Myl1 mutation (17 available)
Tfam^tm1Lrsn mutation (1 available); any Tfam mutation (11 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Skeletal muscle analysis of Tfam^tm1Lrsn/Tfam^tm1Lrsn Myl1^tm1(cre)Sjb/Myl1⁺ mice

mortality/aging

premature death ( J:81561 )

• death occurs at 4-5 months of age

muscle

increased skeletal muscle fiber size ( J:81561 )

• increased muscle fiber size containing enlarged mitochondria with distorted cristae

impaired skeletal muscle contractility ( J:81561 )

• shorter contraction times and shorter twitch-relaxation times

• decreased absolute muscle force

cellular

abnormal respiratory electron transport chain ( J:81561 )

• respiratory chain dysfunction in skeletal muscle

behavior/neurological

bradykinesia ( J:81561 )

• from 3-4 months of age

growth/size/body

weight loss ( J:81561 )

• beginning at 4-5 months of age

Allelic Composition	Trp53inp2^tm1Azo/Trp53inp2^tm1Azo Myl1^tm1(cre)Sjb/Myl1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1^tm1(cre)Sjb mutation (2 available); any Myl1 mutation (17 available)
Trp53inp2^tm1Azo mutation (0 available); any Trp53inp2 mutation (10 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cellular

impaired autophagy ( J:212763 )

• 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

increased lean body mass ( J:212763 )

• increase in lean tissue volume

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:212763 )

N	• 4 month old mice show no difference in glycemia and they respond normally in a glucose tolerance test

impaired autophagy ( J:212763 )

• streptozotocin-treated mice show a blunted reduction in LC3I levels indicating reduced autophagy

decreased physiological sensitivity to xenobiotic ( J:212763 )

• 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

abnormal skeletal muscle morphology ( J:212763 )

• mice show less muscle loss upon induction of diabetes with streptozotocin than wild-type mice indicating partial protection of muscle wasting induced by diabetes

increased skeletal muscle fiber diameter ( J:212763 )

• 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

increased skeletal muscle weight ( J:212763 )

• mice show increased tibialis anterior, gastrocnemius, and quadriceps muscle weights

• however, no changes in body weight or food intake are seen

skeletal muscle hypertrophy ( J:212763 )

Allelic Composition	Myl1^tm1(cre)Sjb/Myl1⁺ Smarcd3^tm1Jddl/Smarcd3^tm1Jddl
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl1^tm1(cre)Sjb mutation (2 available); any Myl1 mutation (17 available)
Smarcd3^tm1Jddl mutation (1 available); any Smarcd3 mutation (25 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

increased circulating glucose level ( J:256788 )

• 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

impaired glucose tolerance ( J:256788 )

• 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 resistance ( J:256788 )

• insulin tolerance test indicates that high fat diet-fed mice are more insulin resistant than controls

• streptozotocin-treated mice are more insulin-resistant

muscle

abnormal muscle physiology ( J:256788 )

• 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

growth/size/body region phenotype ( J:256788 )

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

Allelic Composition	Ralgapa1^{tm2c(KOMP)Wtsi}/Ralgapa1^{tm2c(KOMP)Wtsi} Myl1^tm1(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:
Myl1^tm1(cre)Sjb mutation (2 available); any Myl1 mutation (17 available)
Ralgapa1^{tm2c(KOMP)Wtsi} mutation (0 available); any Ralgapa1 mutation (143 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

increased circulating insulin level ( J:287672 )

• when fed a high-fat diet, but not standard chow

improved glucose tolerance ( J:287672 )

• when fed standard chow or a high-fat diet

abnormal lipid homeostasis ( J:287672 )

• mice fed olive oil exhibit improved ability to control blood lipids compared with control mice

increased circulating cholesterol level ( J:287672 )

• when fed standard chow or a high-fat diet

increased circulating free fatty acids level ( J:287672 )

• when fed a high-fat diet, but not standard chow

increased circulating triglyceride level ( J:287672 )

• when fed standard chow or a high-fat diet

muscle

increased muscle cell glucose uptake ( J:287672 )

• insulin-stimulated

cellular

increased muscle cell glucose uptake ( J:287672 )

• insulin-stimulated

Allelic Composition	Cox10^tm1Ctm/Cox10^tm1Ctm Myl1^tm1(cre)Sjb/Myl1⁺
Genetic Background	involves: 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cox10^tm1Ctm mutation (1 available); any Cox10 mutation (20 available)
Myl1^tm1(cre)Sjb mutation (2 available); any Myl1 mutation (17 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:101747 )

• mutant mice have a shorter life span

• females died younger than males

muscle

abnormal skeletal muscle morphology ( J:101747 )

• showed areas of mitochondrial proliferation and markedly enlarged and swollen mitochondria

• no signs of fibrosis, inflammation, or apoptosis were seen

increased variability of skeletal muscle fiber size ( J:101747 )

• mutant muscle fibers are more heterogeneous in size

decreased skeletal muscle mass ( J:101747 )

• at 3-4 months of age, severe reductions in muscle mass are seen

increased muscle fatigability ( J:101747 )

• maximal force evoked in mutant muscle is significantly smaller

• the muscles from mutant mice are more fatigable than control

myopathy ( J:101747 )

• 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

weight loss ( J:101747 )

• at 3-4 months of age, they started to lose weight

• female mutant mice weigh less at an early age

skeleton

kyphosis ( J:101747 )

• starting at 3-4 months of age

behavior/neurological

decreased locomotor activity ( J:101747 )

• 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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