All Phenotypes Acta1<tm1Hrd> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Acta1^tm1Hrd
targeted mutation 1, Edna C Hardeman
MGI:5424775

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Acta1^tm1Hrd/Acta1⁺	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc)	MGI:5424992
cx2	Acta1^tm1Hrd/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	Acta1^tm1Hrd/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	Acta1^tm1Hrd/Acta1⁺ Tg(MSV-SKI)33Hugh/?	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc)	MGI:5425007

Allelic Composition	Acta1^tm1Hrd/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:
Acta1^tm1Hrd mutation (1 available); any Acta1 mutation (16 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

decreased muscle weight ( J:184588 )

vision/eye

blepharoptosis ( J:184588 )

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

Allelic Composition	Acta1^tm1Hrd/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:
Acta1^tm1Hrd mutation (1 available); any Acta1 mutation (16 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

abnormal muscle weight ( J:184588 )

• improved

Allelic Composition	Acta1^tm1Hrd/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:
Acta1^tm1Hrd mutation (1 available); any Acta1 mutation (16 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

abnormal muscle weight ( J:184588 )

• improved

Allelic Composition	Acta1^tm1Hrd/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:
Acta1^tm1Hrd mutation (1 available); any Acta1 mutation (16 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

abnormal muscle weight ( J:184588 )

• improved

Contributing Projects: 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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