Phenotypes associated with this allele

• Allele Symbol: Acta1^tm1Jll
• Allele Name: targeted mutation 1, James L Lessard
• Allele ID: MGI:2183817
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Acta1^tm1Jll/Acta1^tm1Jll	involves: 129P2/OlaHsd * Black Swiss	MGI:2447327
cx2	Acta1^tm1Jll/Acta1^+ Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno	involves: C57BL/6 * CBA	MGI:5566913

Genotype
MGI:2447327

hm1

• Allelic Composition: Acta1^tm1Jll/Acta1^tm1Jll
• Genetic Background: involves: 129P2/OlaHsd * Black Swiss

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

mortality/aging

postnatal lethality, complete penetrance ( J:78070 )

• all die within 10 days of birth, with most dying between 4 and 6 days of birth

• mutants appear to die from malnutrition

adipose tissue

decreased brown adipose tissue amount ( J:78070 )

• severe atrophy of brown fat is seen at 4 days of age

growth/size/body

decreased body size ( J:78070 )

• evident by postnatal day 3

decreased body weight ( J:78070 )

• evident by postnatal day 3

muscle

decreased skeletal muscle glycogen level ( J:78070 )

• severe depletion of glycogen stores in skeletal muscle fibers is seen at 4 days of age

abnormal muscle development ( J:78070 )

• at the time of death, mutants exhibit muscle immaturity as indicated by more prominent interstital space in the muscles

abnormal skeletal muscle fiber morphology ( J:78070 )

• severe reduction in intermyofibrillar glycogen granules in skeletal muscle by 4 days of age

decreased skeletal muscle fiber diameter ( J:78070 )

• a reduction in muscle fiber diameter is seen at 4 days of age

abnormal muscle physiology ( J:78070 )

• force production in EDL muscles is lower

muscle weakness ( J:78070 )

skeleton

scoliosis ( J:78070 )

• often show signs of scoliosis that is consistent with muscle weakness

homeostasis/metabolism

decreased glycogen level ( J:78070 )

decreased liver glycogen level ( J:78070 )

• severe depletion of glycogen stores in hepatocytes is seen at 4 days of age

decreased skeletal muscle glycogen level ( J:78070 )

• severe depletion of glycogen stores in skeletal muscle fibers is seen at 4 days of age

liver/biliary system

decreased liver glycogen level ( J:78070 )

• severe depletion of glycogen stores in hepatocytes is seen at 4 days of age

Genotype
MGI:5566913

cx2

• Allelic Composition: Acta1^tm1Jll/Acta1⁺; Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

premature death ( J:209273 )

• only about 18% of mice survive to sexual maturity

growth/size/body

decreased body weight ( J:209273 )

• between P10 and P12, pups show reduced body mass

behavior/neurological

hindlimb paralysis ( J:209273 )

• about 82% of mutants develop severe hindlimb paralysis and immobility between P8 and P17

muscle

abnormal muscle fiber morphology ( J:209273 )

• about 20% of muscle fibers display widespread myofibril disorganization

• subsarcolemmal accumulations of fine filaments and atrophic fibers

• fast-twitch predominant and slow-twitch soleus muscle of adults shows large aggregates that correspond to regions of nemaline bodies

• Ringbinden are prominent in fast-twitch muscle of surviving mutants

abnormal Z line morphology ( J:209273 )

• Z-band fragmentation and streaming

abnormal skeletal muscle morphology ( J:209273 )

• skeletal muscles show numerous aggregates of filamentous actin and the presence of nemaline bodies

increased variability of skeletal muscle fiber size ( J:209273 )

• large variations in myofiber size

reproductive system

reduced fertility ( J:209273 )

• the mutants that survive to sexual maturity are poor breeders, producing no, or only a few small litters

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 3		DOID:0110927	OMIM:161800	J:209273