Phenotypes associated with this allele

• Allele Symbol: Plpp7^em1Eno
• Allele Name: endonuclease-mediated mutation 1, Eric N Olson
• Allele ID: MGI:6507762
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Plpp7^em1Eno/Plpp7^em1Eno	involves: C3H * C57BL/6 * C57BL/6N	MGI:6507870

Genotype
MGI:6507870

hm1

• Allelic Composition: Plpp7^em1Eno/Plpp7^em1Eno
• Genetic Background: involves: C3H * C57BL/6 * C57BL/6N

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

muscle

muscle phenotype ( J:302139 )

N • normal neuromuscular junctions in quadriceps at age P17

abnormal cardiac muscle tissue morphology ( J:302139 )

• smaller cardiomyocytes

abnormal sarcomere morphology ( J:302139 )

• sarcomeric disarray in diaphragm at age P17

abnormal skeletal muscle fiber morphology ( J:302139 )

• decreased myofiber cross-sectional area at age P17

• normal number of nuclei per fiber and percentage Pax7+ satellite cells relative to total number of myonuclei at age P17

• shift towards type I and IIa oxidative fiber composition in quadriceps

• nuclear envelope deformities (jagged appearance, pronounced invaginations and projections that protruded into sarcomeres) in muscle cells, increasing in frequency with age

decreased skeletal muscle fiber diameter ( J:302139 )

• at age P17

abnormal muscle physiology ( J:302139 )

• increased fatigue resistance in extensor digitorum longus (EDL) muscle

• increases in fatty acid species and decreases in glycolysis intermediates in hindlimb muscle

muscle weakness ( J:302139 )

• reduced tetanic force in extensor digitorum longus (EDL) and soleus muscles at age P17

mortality/aging

mortality/aging ( J:302139 )

N • mice born at normal Mendelian ratio without obvious anomalies

preweaning lethality, complete penetrance ( J:302139 )

• progressive lethality from age P13; no survival beyond P23

cellular

cellular phenotype ( J:302139 )

N • normal mitochondrial biogenesis in quadriceps muscle

abnormal cell nucleus morphology ( J:302139 )

• nuclear envelope deformities (jagged appearance, pronounced invaginations and projections that protruded into sarcomeres) in muscle cells, increasing in frequency with age

abnormal chromosome morphology ( J:302139 )

• differential changes in chromatin accessibility in quadriceps muscle: promoters of genes involved in lipid metabolism (e.g. Acyl-CoA transferase 1 (Acot1)) more accessible; genes related to carbohydrate metabolism and muscle contraction (e.g. fast fiber-type myosin-binding protein C (Mybpc2)) less accessible

growth/size/body

postnatal growth retardation ( J:302139 )

• failure to thrive; runted appearance by age P7

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:302139 )

N • normal circulating insulin levels

hypoglycemia ( J:302139 )

cardiovascular system

cardiovascular system phenotype ( J:302139 )

N • normal heart function

abnormal cardiac muscle tissue morphology ( J:302139 )

• smaller cardiomyocytes

behavior/neurological

abnormal gait ( J:302139 )

• waddling gait at P17, associated with increasing number of falls

nervous system

nervous system phenotype ( J:302139 )

N • normal neuromuscular junctions in quadriceps at age P17