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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Acta1tm1Hrd
targeted mutation 1, Edna C Hardeman
MGI:5424775
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Acta1tm1Hrd/Acta1+ either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc) MGI:5424992
cx2
 		Acta1tm1Hrd/Acta1+
Tg(Myl1-Igf1)1Nros/? 		either: (involves: 129S1/Sv * 129X1/SvJ * FVB/N) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc * FVB/N) MGI:5425000
cx3
 		Acta1tm1Hrd/Acta1+
Tg(ACTA1-FHL1)#Cmit/? 		either: (involves: 129S1/Sv * 129X1/SvJ * FVB/N) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc * FVB/N) MGI:5425003
cx4
 		Acta1tm1Hrd/Acta1+
Tg(MSV-SKI)33Hugh/? 		either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc) MGI:5425007


Genotype
MGI:5424992
ht1
Allelic
Composition		 Acta1tm1Hrd/Acta1+
Genetic
Background		 either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acta1tm1Hrd mutation (1 available); any Acta1 mutation (14 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:184588 )
• 52-61% of males die by 13 weeks of age
• 3-5% of females die by 13 weeks of age

craniofacial
facial muscle atrophy ( J:184588 )
• atrophy of facial muscles

growth/size/body
facial muscle atrophy ( J:184588 )
• atrophy of facial muscles
decreased body weight ( J:184588 )
• whole body weight is reduced

behavior/neurological
decreased grip strength ( J:184588 )
• forearm grip strength significantly reduced through 8 weeks of age
• absolute twitch and tetanic force is reduced to 30-40% of controls in extensor digitorum longus muscle
decreased locomotor activity ( J:184588 )
• significantly reduced mobility in open field tests through 12 weeks of age

muscle
facial muscle atrophy ( J:184588 )
• atrophy of facial muscles
abnormal muscle fiber morphology ( J:184588 )
• nemaline rods in cytoplasm and nucleus of muscle fibers and cardiomyocytes
• areas of myofiber degeneration and repair
• 27% increase in myosin type 1 fibers
abnormal sarcomere morphology ( J:184588 )
• sarcomeric filament arrays replaced by electron dense (thick fiber) and light (thin fiber) areas

vision/eye
excessive tearing ( J:184588 )
• watery eyes

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
nemaline myopathy 3 DOID:0110927 OMIM:161800
 J:184588




Genotype
MGI:5425000
cx2
Allelic
Composition		 Acta1tm1Hrd/Acta1+
Tg(Myl1-Igf1)1Nros/?
Genetic
Background		 either: (involves: 129S1/Sv * 129X1/SvJ * FVB/N) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc * FVB/N)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acta1tm1Hrd mutation (1 available); any Acta1 mutation (14 available)
Tg(Myl1-Igf1)1Nros mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:184588 )
• survival is not affected by the presence of the transgene

behavior/neurological
behavior/neurological phenotype ( J:184588 )
N
• mobility in open field tests is normal
increased grip strength ( J:184588 )
• forearm grip strength is improved

muscle
abnormal muscle fiber morphology ( J:184588 )
• nemaline rod pathology is improved
• increased myofiber size




Genotype
MGI:5425003
cx3
Allelic
Composition		 Acta1tm1Hrd/Acta1+
Tg(ACTA1-FHL1)#Cmit/?
Genetic
Background		 either: (involves: 129S1/Sv * 129X1/SvJ * FVB/N) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc * FVB/N)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acta1tm1Hrd mutation (1 available); any Acta1 mutation (14 available)
Tg(ACTA1-FHL1)#Cmit mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
behavior/neurological phenotype ( J:184588 )
N
• mobility in open field tests is normal
increased grip strength ( J:184588 )
• forearm grip strength is improved

mortality/aging
premature death ( J:184588 )
• survival is not affected by the presence of the transgene

muscle
abnormal muscle fiber morphology ( J:184588 )
• nemaline rod pathology is improved
• increased myofiber size




Genotype
MGI:5425007
cx4
Allelic
Composition		 Acta1tm1Hrd/Acta1+
Tg(MSV-SKI)33Hugh/?
Genetic
Background		 either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acta1tm1Hrd mutation (1 available); any Acta1 mutation (14 available)
Tg(MSV-SKI)33Hugh mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
behavior/neurological phenotype ( J:184588 )
N
• mobility in open field tests is normal
abnormal grip strength ( J:184588 )
• forearm grip strength is unaffected by presence of transgene
decreased locomotor activity ( J:184588 )
• mobility in open field tests is unaffected by presence of transgene

mortality/aging
premature death ( J:184588 )
• survival is not affected by the presence of the transgene

muscle
abnormal muscle fiber morphology ( J:184588 )
• increased myofiber size
• nemaline rod pathology is unaffected by presence of transgene




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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05/14/2024
MGI 6.23 		The Jackson Laboratory