Phenotypes associated with this allele

• Allele Symbol: Spin1^tm1.1Rosc
• Allele Name: targeted mutation 1.1, Roland Schule
• Allele ID: MGI:6511292
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Myf5^tm3(cre)Sor/Myf5^+ Spin1^tm1.1Rosc/Spin1^tm1.1Rosc	involves: 129S4/SvJaeSor * C57BL/6N * C57BL/6NTac	MGI:6511296

Genotype
MGI:6511296

cn1

• Allelic Composition: Myf5^tm3(cre)Sor/Myf5⁺; Spin1^tm1.1Rosc/Spin1^tm1.1Rosc
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6N * C57BL/6NTac

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:302851 )

• about 80% of mice die within 1 day after birth

growth/size/body

decreased body weight ( J:302851 )

• adult mice weigh only around 60% of controls

cachexia ( J:302851 )

• adult mice exhibit cachexia

behavior/neurological

absent gastric milk in neonates ( J:302851 )

• newborns show an absence of milk in the stomach

abnormal posture ( J:302851 )

• newborns exhibit an abnormal posture

limbs/digits/tail

abnormal forelimb morphology ( J:302851 )

• dropping forelimbs are seen at E16.5

abnormal soleus morphology ( J:302851 )

• adult mice exhibit abnormally thin and pale soleus muscle

• adults show degeneration of the soleus muscle, showing rounded fibers, differences in fiber diameters, and presence of inflammatory cells

abnormal tibialis anterior morphology ( J:302851 )

• tibialis anterior muscle shows loss of fibers and numerous immature or degenerating fibers lacking contractile material in newborns

• adult mice show tibialis anterior muscle degeneration

• in adult tibialis anterior muscle, fiber types are not clearly distinguishable and type II a fibers are rarely observed

muscle

abnormal myogenesis ( J:302851 )

• transcriptome analysis indicates aberrant fetal myogenesis

abnormal M line morphology ( J:302851 )

• non-necrotic muscle fibers lack a clear M-line

abnormal skeletal muscle morphology ( J:302851 )

• transcriptome analysis indicates that the approximate onset of skeletal muscle defects is E15.5

abnormal soleus morphology ( J:302851 )

• adult mice exhibit abnormally thin and pale soleus muscle

• adults show degeneration of the soleus muscle, showing rounded fibers, differences in fiber diameters, and presence of inflammatory cells

abnormal tibialis anterior morphology ( J:302851 )

• tibialis anterior muscle shows loss of fibers and numerous immature or degenerating fibers lacking contractile material in newborns

• adult mice show tibialis anterior muscle degeneration

• in adult tibialis anterior muscle, fiber types are not clearly distinguishable and type II a fibers are rarely observed

abnormal skeletal muscle fiber morphology ( J:302851 )

• non-necrotic fibers exhibit defects including a low density of contractile material and the lack of a clear M-line

increased skeletal muscle fiber size ( J:302851 )

• unusually large muscle fibers are more frequently observed at E15

decreased skeletal muscle fiber number ( J:302851 )

• number of tibialis anterior fibers is reduced by about 50% in adults

skeletal muscle fiber necrosis ( J:302851 )

• hindlimb muscles show degenerating, necrotic fibers at E16.5 and in neonates

abnormal diaphragm morphology ( J:302851 )

• adult mice show diaphragm muscle degeneration, with severe muscle fiber degeneration

abnormal skeletal muscle fiber type ratio ( J:302851 )

• in adult tibialis anterior muscle, fiber types are not clearly distinguishable and type II a fibers are rarely observed

• however, all expected fiber types are seen in the degenerating soleus and neighboring plantaris muscles, although irregular fiber size is seen

decreased skeletal muscle mass ( J:302851 )

• hind limb muscles (gastrocnemius, plantaris, tibialis anterior, extensor digitorum longus, and quadriceps) show a reduced mass in adults

• muscle mass reduction is about 60% for tibialis anterior and about 30% for the other muscles

skeletal muscle degeneration ( J:302851 )

• mice show soleus, tibialis anterior, and diaphragm muscle degeneration in adults

skeletal muscle fiber degeneration ( J:302851 )

• hindlimb muscles show degenerating, necrotic fibers, defective mitochondria, and abnormal glycogen accumulation in newborns and at E16.5

• soleus and diaphragms show muscle fiber degeneration

• however, gastrocnemius and extensor digitorum longus appear largely normal

skeletal muscle fibrosis ( J:302851 )

• adult soleus and tibialis anterior muscles show abnormal collagen deposition indicating fibrosis in adults

nervous system

abnormal neuromuscular synapse morphology ( J:302851 )

• neuromuscular junctions in the diaphragm of newborns and adults show defects of the synaptic membrane and an abnormal appearance, and reduced number of synaptic vesicles

• adult mice exhibit the presence of vacuoles at nerve terminals

skeleton

scoliosis ( J:302851 )

• adult surviving mice exhibit severe scoliosis