Phenotypes Associated with This Genotype

Genotype
MGI:2447327

• 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