All Phenotypes Actg1<tm1Erv> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Actg1^tm1Erv
targeted mutation 1, James M Ervasti
MGI:3664246

Summary

2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Actg1^tm1Erv/Actg1^tm1.1Erv	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4882053
cn2	Actg1^tm1Erv/Actg1^tm1Erv Tg(ACTA1-cre)79Jme/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3688083

Allelic Composition	Actg1^tm1Erv/Actg1^tm1.1Erv
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actg1^tm1.1Erv mutation (0 available); any Actg1 mutation (23 available)
Actg1^tm1Erv mutation (0 available); any Actg1 mutation (23 available)

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

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:167543 )

• reduction in stereocilia numbers is similar to Actg1^tm1.1Erv homozygotes

increased susceptibility to age-related hearing loss ( J:167543 )

• marked hearing loss by 28 weeks of age

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:167543 )

• reduction in stereocilia numbers is similar to Actg1^tm1.1Erv homozygotes

Allelic Composition	Actg1^tm1Erv/Actg1^tm1Erv Tg(ACTA1-cre)79Jme/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actg1^tm1Erv mutation (0 available); any Actg1 mutation (23 available)
Tg(ACTA1-cre)79Jme mutation (2 available)

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

behavior/neurological

limb grasping ( J:112808 )

• about 2/3 of mice show classical hind limb contractures when suspended by the tail

• persists throughout life without getting any worse

decreased locomotor activity ( J:112808 )

• reduced mobility

• persists throughout life without getting any worse

muscle

abnormal Z line morphology ( J:112808 )

• dystrophin is less organized at the z-line in some muscles

abnormal skeletal muscle fiber morphology ( J:112808 )

• muscles primarily made up of type II fibers are most affected

increased variability of skeletal muscle fiber size ( J:112808 )

• more variability in muscle fiber size

centrally nucleated skeletal muscle fibers ( J:112808 )

• centrally nucleated fibers start appearing in muscle at about 3 months of age and progress to widespread incidence by 12 to 18 months

impaired skeletal muscle contractility ( J:112808 )

• maximal force production by extensor digitorum longus muscle is less than in controls

• maximal titanic force is similar to controls

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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