Phenotypes associated with this allele

• Allele Symbol: Tln2^tm1.1Crit
• Allele Name: targeted mutation 1.1, David R Critchley
• Allele ID: MGI:4358355
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tln2^tm1.1Crit/Tln2^tm1.1Crit	involves: 129P2/OlaHsd * BALB/cJ	MGI:4366946
hm2	Tln2^tm1.1Crit/Tln2^tm1.1Crit	involves: 129P2/OlaHsd * C57BL/6	MGI:4358388
cn3	Tln1^tm4.1Crit/Tln1^tm4.1Crit Tln2^tm1.1Crit/Tln2^tm1.1Crit Tg(ACTA1-cre)1Mll/0	involves: 129P2/OlaHsd * BALB/cJ	MGI:4366947

Genotype
MGI:4366946

hm1

• Allelic Composition: Tln2^tm1.1Crit/Tln2^tm1.1Crit
• Genetic Background: involves: 129P2/OlaHsd * BALB/cJ

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

muscle

muscle phenotype ( J:153959 )

N • mice exhibit no evidence of sarcolemmal damage or defects in assembly of muscle fiber cytoskeleton

centrally nucleated skeletal muscle fibers ( J:153959 )

• at 1 month of age, centrally nucleated skeletal muscle fibers are observed slightly more often than in wild-type mice

• at 7 month of age, centrally nucleated skeletal muscle fibers are observed drastically more often than in wild-type mice

• more fibers with centrally located nuclei are detected in the soleus compared to in the gastrocnemius and tibialis

Genotype
MGI:4358388

hm2

• Allelic Composition: Tln2^tm1.1Crit/Tln2^tm1.1Crit
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

muscle

abnormal skeletal muscle morphology ( J:152372 )

Genotype
MGI:4366947

cn3

• Allelic Composition: Tln1^tm4.1Crit/Tln1^tm4.1Crit; Tln2^tm1.1Crit/Tln2^tm1.1Crit; Tg(ACTA1-cre)1Mll/0
• Genetic Background: involves: 129P2/OlaHsd * BALB/cJ

mortality/aging

neonatal lethality, complete penetrance ( J:153959 )

• mice die shortly after birth

muscle

abnormal muscle morphology ( J:153959 )

• at E18.5, muscle fibers are disorganized with variation in fiber size unlike in wild-type mice

• myofilaments are detached from the myotendinous junction and necrotic material accumulates in gaps unlike in wild-type mice

abnormal myoblast fusion ( J:153959 )

• at E18.5, unfused myoblasts are observed in developing muscle unlike in wild-type mice

• myoblasts fail to fuse in culture unlike wild-type cells

abnormal myotome morphology ( J:153959 )

• unlike in wild-type mice, myotomes form only occasionally but are short with rudimentary cytoskeletons

abnormal sarcomere morphology ( J:153959 )

• myofilament organization is disrupted and the Z-bands appear rudimentary unlike in wild-type mice

• myofilaments are detached from the myotendinous junction and necrotic material accumulates in gaps unlike in wild-type mice

abnormal Z line morphology ( J:153959 )

• Z-bands appear rudimentary

increased variability of skeletal muscle fiber size ( J:153959 )

• at E18.5

behavior/neurological

abnormal posture ( J:153959 )

• mice exhibit a contracted posture at birth

cellular

abnormal cell cytoskeleton morphology ( J:153959 )

• unlike in wild-type mice, myotomes form only occasionally but are short with rudimentary cytoskeletons

abnormal myoblast fusion ( J:153959 )

• at E18.5, unfused myoblasts are observed in developing muscle unlike in wild-type mice

• myoblasts fail to fuse in culture unlike wild-type cells