Phenotypes associated with this allele
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(ACTA1-cre)1Mll mutation
(0 available)
Tln1tm4.1Crit mutation
(2 available);
any
Tln1 mutation
(147 available)
Tln2tm1.1Crit mutation
(0 available);
any
Tln2 mutation
(149 available)
|
|
|
mortality/aging
|
• mice die shortly after birth
|
muscle
|
• 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
|
|
• 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
|
|
• unlike in wild-type mice, myotomes form only occasionally but are short with rudimentary cytoskeletons
|
|
• 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
|
|
• Z-bands appear rudimentary
|
behavior/neurological
|
• mice exhibit a contracted posture at birth
|
cellular
|
• unlike in wild-type mice, myotomes form only occasionally but are short with rudimentary cytoskeletons
|
|
• 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
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lama5tm2Jhm mutation
(0 available);
any
Lama5 mutation
(153 available)
Tg(ACTA1-cre)1Mll mutation
(0 available)
|
|
|
nervous system
|
• topological maturation of postsynaptic membrane at the neuromuscular junction (NMJ) is delayed by more than a week in the sternomastoid muscle compared to in wild-type mice
• both pre- and postsynaptic NMJ differentiation is delayed compared to in wild-type mice
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lama4tm1Ktry mutation
(1 available);
any
Lama4 mutation
(113 available)
Lama5tm2Jhm mutation
(0 available);
any
Lama5 mutation
(153 available)
Tg(ACTA1-cre)1Mll mutation
(0 available)
|
|
|
mortality/aging
|
• mice die at around 3 months of age
|
nervous system
|
• nuscle innervation is incomplete unlike in wild-type mice
|
|
• both pre- and postsynaptic neuromuscular junction (NMJ) differentiation is delayed compared to in wild-type mice
• Schwann cell distribution is abnormal secondary to presynaptic defects in the NMJs
|
behavior/neurological
|
• mice are weaker than either single homozygous mice
|
growth/size/body
|
• mice are smaller than either single homozygous mice
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Mll mutation
(1 available);
any
Erbb2 mutation
(59 available)
Erbb2tm3(Erbb2)Mul mutation
(0 available);
any
Erbb2 mutation
(59 available)
Tg(ACTA1-cre)1Mll mutation
(0 available)
|
|
|
behavior/neurological
|
• when placed on a slippery surface, mutants are unable to position their limbs properly
• mutants exhibit spastic movements
|
|
• abnormal hindlimb extension reflexes
|
muscle
|
• initial contact between sensory Ia afferent neurons and myotubes occurs but subsequent development of muscle spindles is impaired
|
|
• absence of muscle spindles
|
nervous system
|
• initial contact between sensory Ia afferent neurons and myotubes occurs but subsequent development of muscle spindles is impaired
|
|
• absence of muscle spindles
|
|
• synapses at neuromuscular junctions contain reduced numbers of acetylcholine receptors
|
|
• mutants exhibit reduced synaptic transmission at neuromuscular junctions; mepc amplitudes are reduced by about 15% compared to wild-type
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rictortm1Rueg mutation
(1 available);
any
Rictor mutation
(140 available)
Tg(ACTA1-cre)1Mll mutation
(0 available)
|
|
|
mortality/aging
N |
• mice exhibit a normal lifespan
|
growth/size/body
|
• slightly at higher ages
|
muscle
N |
• mice exhibit normal muscle morphology
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rptortm1Rueg mutation
(1 available);
any
Rptor mutation
(115 available)
Tg(ACTA1-cre)1Mll mutation
(0 available)
|
|
|
mortality/aging
|
• mice begin to die at 110 days and none survives beyond 190 days unlike wild-type mice
|
muscle
|
• muscles are pale compared to in wild-type mice
• muscles have few intermyofibrillar mitochondrial that are localized to the subsarcolemmal space, densely packed and swollen compared to in wild-type muscles
• the EDL and soleus exhibit increased expression of slow-twitch-specific markers
|
|
• muscles exhibit signs of dystrophy including mononuclear cells, a high number of small and large muscle fibers, active de- and re-generation, and centralized nuclei unlike in wild-type muscle
• dystrophy is severe in the diaphragm
|
|
• the soleus muscle exhibits characteristics (time to peak, half time to peak and relaxation time of the twitch) of slow muscles unlike in wild-type mice
• twitch force and maximal titanic absolute force for the EDL and soleus muscles are less than in wild-type muscles
• the EDL and soleus muscles are more resistant to fatigue than in wild-type mice
• muscles exhibit a reduction in aerobic capacity compared to in wild-type muscles
|
|
• slower than in wild-type muscles
|
homeostasis/metabolism
growth/size/body
adipose tissue
skeleton
|
• mice develop severe kyphosis beginning at 2 months of age unlike wild-type mice
|
behavior/neurological
|
• mice run for shorter and less frequent bouts than wild type mice with decreased top running speeds
|
cellular
|
• slower than in wild-type muscles
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rictortm1Rueg mutation
(1 available);
any
Rictor mutation
(140 available)
Rptortm1Rueg mutation
(1 available);
any
Rptor mutation
(115 available)
Tg(ACTA1-cre)1Mll mutation
(0 available)
|
|
|
mortality/aging
muscle
adipose tissue
growth/size/body
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Map2k4tm1Ctr mutation
(0 available);
any
Map2k4 mutation
(32 available)
Tg(ACTA1-cre)1Mll mutation
(0 available)
|
|
|
behavior/neurological
|
• mice are slightly less able to hold onto a hanging wire than wild-type mice
• however, righting behavior is normal
|