Phenotypes associated with this allele

• Allele Symbol: Npl^em1Avps
• Allele Name: endonuclease-mediated mutation 1, Alexey Pshezhetsky
• Allele ID: MGI:7567785
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Npl^em1Avps/Npl^em1Avps	C57BL/6-Npl^em1Avps	MGI:7567853

Genotype
MGI:7567853

hm1

• Allelic Composition: Npl^em1Avps/Npl^em1Avps
• Genetic Background: C57BL/6-Npl^em1Avps

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

muscle

muscle phenotype ( J:342764 )

N • normal weight ratios between body and quadriceps, triceps, gastrocnemius, and tibialis anterior muscle mass

decreased skeletal muscle fiber size ( J:342764 )

• shift towards smaller muscle fiber diameters in quadriceps muscles

• smaller diameter of newly formed fibers 21 days after injection of cardiotoxin into right tibialis anterior muscle

muscle weakness ( J:342764 )

• reduced latency to fall in front limb suspension test at age 10 days and rear limb suspension test at age 6 weeks

• reduced grip strength at age 10 weeks

• reduced maximum tetanic force and specific force of EDL muscle ex vivo

• shorter latency to fall in accelerated rotarod test in fed mice; more pronounced after 12h fast

cardiovascular system

cardiovascular system phenotype ( J:342764 )

N • normal heart to body mass ratio

N • normal heart rate, left ventricular ejection fraction (LVEF), left ventricular end-diastolic dimension (LVEDD), and left ventricular end-systolic dimension (LVESD)

cellular

increased mitochondrial number ( J:342764 )

• in quadriceps muscle

abnormal cellular respiration ( J:342764 )

• reduced mitochondrial and ATP-linked respiration in primary myoblasts

abnormal oxidative phosphorylation ( J:342764 )

• increased levels of lactate and pyruvate in quadriceps muscle

embryo

embryo phenotype ( J:342764 )

N • born at normal Mendelian ratios

growth/size/body

growth/size/body region phenotype ( J:342764 )

N • normal gross body, organ and tissue morphology

N • normal body mass gain

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:342764 )

N • normal lactate dehydrogenase, pyruvate dehydrogenase, oxoglutarate dehydrogenase, glutamate pyruvate transaminase, and glutamate oxaloacetate transaminase levels in quadriceps muscle

impaired exercise endurance ( J:342764 )

• shorter latency to fall in accelerated rotarod test in fed mice; more pronounced after 12h fast

abnormal urine homeostasis ( J:342764 )

• elevated free sialic acid levels

delayed wound healing ( J:342764 )

• less muscle regeneration 14 and 21 days after injection of cardiotoxin into right tibialis anterior muscle

behavior/neurological

behavior/neurological phenotype ( J:342764 )

N • normal behavior in Y-maze at age 4 months

impaired exercise endurance ( J:342764 )

• shorter latency to fall in accelerated rotarod test in fed mice; more pronounced after 12h fast

renal/urinary system

abnormal urine homeostasis ( J:342764 )

• elevated free sialic acid levels

reproductive system

reproductive system phenotype ( J:342764 )

N • fertile and normal litter size