Phenotypes associated with this allele

• Allele Symbol: Npl^em2Avps
• Allele Name: endonuclease-mediated mutation 2, Alexey Pshezhetsky
• Allele ID: MGI:7567786
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Npl^em2Avps/Npl^em2Avps	C57BL/6-Npl^em2Avps	MGI:7567855

Genotype
MGI:7567855

hm1

• Allelic Composition: Npl^em2Avps/Npl^em2Avps
• Genetic Background: C57BL/6-Npl^em2Avps

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

muscle

muscle phenotype ( J:342764 )

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

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

cardiovascular system

cardiovascular system phenotype ( J:342764 )

• normal heart to body mass ratio

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 )

• born at normal Mendelian ratios

growth/size/body

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

• normal gross body, organ and tissue morphology

• normal body mass gain

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:342764 )

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

abnormal urine homeostasis ( J:342764 )

• elevated free sialic acid levels

behavior/neurological

behavior/neurological phenotype ( J:342764 )

• normal behavior in Y-maze at age 4 months

renal/urinary system

abnormal urine homeostasis ( J:342764 )

• elevated free sialic acid levels

reproductive system

reproductive system phenotype ( J:342764 )

• fertile and normal litter size