Phenotypes associated with this allele

• Allele Symbol: Tg(ACTA1-cre)1Mll
• Allele Name: transgene insertion 1, Ulrich Muller
• Allele ID: MGI:2656907
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Tln1^tm4.1Crit/Tln1^tm4.1Crit Tln2^tm1.1Crit/Tln2^tm1.1Crit Tg(ACTA1-cre)1Mll/0	involves: 129P2/OlaHsd * BALB/cJ	MGI:4366947
cn2	Lama5^tm2Jhm/Lama5^tm2Jhm Tg(ACTA1-cre)1Mll/0	involves: 129S1/Sv * 129X1/SvJ	MGI:3822742
cn3	Lama4^tm1Ktry/Lama4^tm1Ktry Lama5^tm2Jhm/Lama5^tm2Jhm Tg(ACTA1-cre)1Mll/0	involves: 129S1/Sv * 129X1/SvJ	MGI:3822744
cn4	Erbb2^tm3(Erbb2)Mul/Erbb2^tm1Mll Tg(ACTA1-cre)1Mll/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2656909
cn5	Rictor^tm1Rueg/Rictor^tm1Rueg Tg(ACTA1-cre)1Mll/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3829871
cn6	Rptor^tm1Rueg/Rptor^tm1Rueg Tg(ACTA1-cre)1Mll/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3829872
cn7	Rictor^tm1Rueg/Rictor^tm1Rueg Rptor^tm1Rueg/Rptor^tm1Rueg Tg(ACTA1-cre)1Mll/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3829873
cn8	Map2k4^tm1Ctr/Map2k4^tm1Ctr Tg(ACTA1-cre)1Mll/?	involves: C57BL/6	MGI:3769134

Genotype
MGI:4366947

cn1

• 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

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

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

Genotype
MGI:3822742

cn2

• Allelic Composition: Lama5^tm2Jhm/Lama5^tm2Jhm; Tg(ACTA1-cre)1Mll/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

nervous system

abnormal neuromuscular synapse morphology ( J:142595 )

• 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

Genotype
MGI:3822744

cn3

• Allelic Composition: Lama4^tm1Ktry/Lama4^tm1Ktry; Lama5^tm2Jhm/Lama5^tm2Jhm; Tg(ACTA1-cre)1Mll/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

premature death ( J:142595 )

• mice die at around 3 months of age

nervous system

abnormal innervation pattern to muscle ( J:142595 )

• nuscle innervation is incomplete unlike in wild-type mice

abnormal neuromuscular synapse morphology ( J:142595 )

• 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

weakness ( J:142595 )

• mice are weaker than either single homozygous mice

growth/size/body

decreased body size ( J:142595 )

• mice are smaller than either single homozygous mice

Genotype
MGI:2656909

cn4

• Allelic Composition: Erbb2^{tm3(Erbb2)Mul}/Erbb2^tm1Mll; Tg(ACTA1-cre)1Mll/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:82801 )

• when placed on a slippery surface, mutants are unable to position their limbs properly

• mutants exhibit spastic movements

abnormal reflex ( J:82801 )

• abnormal hindlimb extension reflexes

ataxia ( J:82801 )

muscle

abnormal muscle spindle morphology ( J:82801 )

• initial contact between sensory Ia afferent neurons and myotubes occurs but subsequent development of muscle spindles is impaired

absent muscle spindles ( J:82801 )

• absence of muscle spindles

nervous system

abnormal muscle spindle morphology ( J:82801 )

• initial contact between sensory Ia afferent neurons and myotubes occurs but subsequent development of muscle spindles is impaired

absent muscle spindles ( J:82801 )

• absence of muscle spindles

abnormal neuromuscular synapse morphology ( J:82801 )

• synapses at neuromuscular junctions contain reduced numbers of acetylcholine receptors

abnormal CNS synaptic transmission ( J:82801 )

• mutants exhibit reduced synaptic transmission at neuromuscular junctions; mepc amplitudes are reduced by about 15% compared to wild-type

Genotype
MGI:3829871

cn5

• Allelic Composition: Rictor^tm1Rueg/Rictor^tm1Rueg; Tg(ACTA1-cre)1Mll/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:143748 )

N • mice exhibit a normal lifespan

growth/size/body

increased body weight ( J:143748 )

• slightly at higher ages

muscle

muscle phenotype ( J:143748 )

N • mice exhibit normal muscle morphology

Genotype
MGI:3829872

cn6

• Allelic Composition: Rptor^tm1Rueg/Rptor^tm1Rueg; Tg(ACTA1-cre)1Mll/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

premature death ( J:143748 )

• mice begin to die at 110 days and none survives beyond 190 days unlike wild-type mice

muscle

abnormal muscle morphology ( J:143748 )

• 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

increased skeletal muscle glycogen level ( J:143748 )

decreased muscle weight ( J:143748 )

• at 90 and 140 days

skeletal muscle interstitial fibrosis ( J:143748 )

dystrophic muscle ( J:143748 )

• 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

abnormal muscle physiology ( J:143748 )

• 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

abnormal muscle cell glucose uptake ( J:143748 )

• slower than in wild-type muscles

homeostasis/metabolism

impaired exercise endurance ( J:143748 )

• mice run for shorter and less frequent bouts than wild type mice with decreased top running speeds

increased skeletal muscle glycogen level ( J:143748 )

growth/size/body

increased lean body mass ( J:143748 )

• mice appear lean

decreased body weight ( J:143748 )

• at 63 days of age

adipose tissue

decreased total body fat amount ( J:143748 )

• at 140 days

skeleton

kyphosis ( J:143748 )

• mice develop severe kyphosis beginning at 2 months of age unlike wild-type mice

behavior/neurological

impaired exercise endurance ( J:143748 )

• mice run for shorter and less frequent bouts than wild type mice with decreased top running speeds

cellular

abnormal muscle cell glucose uptake ( J:143748 )

• slower than in wild-type muscles

Genotype
MGI:3829873

cn7

• Allelic Composition: Rictor^tm1Rueg/Rictor^tm1Rueg; Rptor^tm1Rueg/Rptor^tm1Rueg; Tg(ACTA1-cre)1Mll/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

premature death ( J:143748 )

• mice exhibit a phenotype indistinguishable from 4932417H02Rik^tm1Rueg homozygotes

muscle

abnormal muscle morphology ( J:143748 )

• mice exhibit a phenotype indistinguishable from 4932417H02Rik^tm1Rueg homozygotes

abnormal muscle physiology ( J:143748 )

• mice exhibit a phenotype indistinguishable from 4932417H02Rik^tm1Rueg homozygotes

adipose tissue

abnormal adipose tissue morphology ( J:143748 )

• mice exhibit a phenotype indistinguishable from 4932417H02Rik^tm1Rueg homozygotes

growth/size/body

abnormal postnatal growth/weight/body size ( J:143748 )

• mice exhibit a phenotype indistinguishable from 4932417H02Rik^tm1Rueg homozygotes

Genotype
MGI:3769134

cn8

• Allelic Composition: Map2k4^tm1Ctr/Map2k4^tm1Ctr; Tg(ACTA1-cre)1Mll/?
• Genetic Background: involves: C57BL/6

behavior/neurological

impaired coordination ( J:129038 )

• mice are slightly less able to hold onto a hanging wire than wild-type mice

• however, righting behavior is normal