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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Actg1tm1.2Erv
targeted mutation 1.2, James M Ervasti
MGI:4881925
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Actbtm1.1Erv/Actbtm1.1Erv
Actg1tm1.2Erv/Actg1tm1.2Erv
Tg(Atoh1-cre)1Bfri/?
involves: 129/Sv * C57BL/6 * CBA * FVB/N MGI:4882051
cn2
Actg1tm1.2Erv/Actg1tm1.2Erv
Tg(Atoh1-cre)1Bfri/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:4882052
cn3
Actg1tm1.2Erv/Actg1tm1.2Erv
Tg(ACTA1-cre)79Jme/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:4881929


Genotype
MGI:4882051
cn1
Allelic
Composition
Actbtm1.1Erv/Actbtm1.1Erv
Actg1tm1.2Erv/Actg1tm1.2Erv
Tg(Atoh1-cre)1Bfri/?
Genetic
Background
involves: 129/Sv * C57BL/6 * CBA * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actbtm1.1Erv mutation (1 available); any Actb mutation (51 available)
Actg1tm1.2Erv mutation (1 available); any Actg1 mutation (23 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• hair cells lack stereocilia at 5 days of age

nervous system
• hair cells lack stereocilia at 5 days of age




Genotype
MGI:4882052
cn2
Allelic
Composition
Actg1tm1.2Erv/Actg1tm1.2Erv
Tg(Atoh1-cre)1Bfri/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actg1tm1.2Erv mutation (1 available); any Actg1 mutation (23 available)
Tg(Atoh1-cre)1Bfri mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• uniform loss of stereocilia from apical to basal areas of the cochlea at 18 and 24 weeks of age
• loss of stereocilia with the remaining cilia of normal length
• indistinguishable from controls between 4 and 20 kHz at 6 weeks of age
• threshold elevated relative to controls at 32 kHz in 6 week old mice
• significantly eleveated thresholds at all frequencies tested by 18 weeks of age
• progressive hearing loss with age

nervous system
• uniform loss of stereocilia from apical to basal areas of the cochlea at 18 and 24 weeks of age
• loss of stereocilia with the remaining cilia of normal length




Genotype
MGI:4881929
cn3
Allelic
Composition
Actg1tm1.2Erv/Actg1tm1.2Erv
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:
Actg1tm1.2Erv mutation (1 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
• about 2/3 of mice show classical hind limb contractures when suspended by the tail
• persists throughout life without getting any worse
• reduced mobility
• persists throughout life without getting any worse

muscle
• dystrophin is less organized at the z-line in some muscles
• muscles primarily made up of type II fibers are most affected
• more variability in muscle fiber size
• centrally nucleated fibers start appearing in muscle at about 3 months of age and progress to widespread incidence by 12 to 18 months
• maximal force production by extensor digitorum longus muscle is less than in controls
• maximal titanic force is similar to controls





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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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory