Phenotypes associated with this allele

• Allele Symbol: Flnc^tm1Lmk
• Allele Name: targeted mutation 1, Louis M Kunkel
• Allele ID: MGI:3526406
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Flnc^tm1Lmk/Flnc^tm1Lmk	involves: 129X1/SvJ * C57BL/6	MGI:3662844

Genotype
MGI:3662844

hm1

• Allelic Composition: Flnc^tm1Lmk/Flnc^tm1Lmk
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:112170 )

• all die at birth

• homozygotes born by cesarean section at E18.5 die after taking only a few short breaths

respiratory system

respiratory failure ( J:112170 )

• lungs of newborns are not inflated

muscle

abnormal myogenesis ( J:112170 )

• significant reduction in the number of primary muscle fibers in the soleus, tibialis anterior, and extensor digitorum longus muscles

abnormal skeletal muscle morphology ( J:112170 )

• infiltration of connective tissue especially in muscles responsible for respiration

abnormal extensor digitorum longus morphology ( J:112170 )

• reduced number of overall muscle fibers as well as primary muscle fibers

abnormal soleus morphology ( J:112170 )

• reduced number of overall muscle fibers as well as primary muscle fibers

abnormal tibialis anterior morphology ( J:112170 )

• reduced number of overall muscle fibers as well as primary muscle fibers

abnormal skeletal muscle fiber morphology ( J:112170 )

• rounded fibers with centrally located nuclei are seen; however, no increase in the number of apoptotic fibers is detected

• sarcomeric structure is disorganized in the rounded fibers

increased variability of skeletal muscle fiber size ( J:112170 )

• increased variability in fiber diameter

centrally nucleated skeletal muscle fibers ( J:112170 )

• fibers with centrally located nuclei are seen in the diaphragm and the intercostals muscles

• occurrence of large fibers with centrally located nuclei is seen in some muscles

decreased skeletal muscle fiber number ( J:112170 )

• reduced fiber number seen in various skeletal muscles

abnormal diaphragm morphology ( J:112170 )

• fibers with centrally located nuclei and infiltration of connective tissue are seen

• less severe than in the intercostal muscle

abnormal intercostal muscle morphology ( J:112170 )

• fibers with centrally located nuclei and infiltration of connective tissue are seen

decreased skeletal muscle mass ( J:112170 )

• muscle mass is decreased in trunk, limb, intercostal, tongue, extraocular, and facial muscles

cardiovascular system

cardiovascular system phenotype ( J:112170 )

N • heart morphology is similar to wild-type

behavior/neurological

hyporesponsive to tactile stimuli ( J:112170 )

growth/size/body

decreased fetal size ( J:112170 )

• body weight is similar to wild-type at E16.5 but significantly reduced just before birth

• correlates with reduction in muscle mass

limbs/digits/tail

abnormal extensor digitorum longus morphology ( J:112170 )

• reduced number of overall muscle fibers as well as primary muscle fibers

abnormal soleus morphology ( J:112170 )

• reduced number of overall muscle fibers as well as primary muscle fibers

abnormal tibialis anterior morphology ( J:112170 )

• reduced number of overall muscle fibers as well as primary muscle fibers