Phenotypes associated with this allele

• Allele Symbol: Mir218-1^em1Slp
• Allele Name: endonuclease-mediated mutation 1, Samuel L Pfaff
• Allele ID: MGI:5906822
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Mir218-1^em1Slp/Mir218-1^em1Slp Mir218-2^em1Slp/Mir218-2^em1Slp	Not Specified	MGI:5906824

Genotype
MGI:5906824

cx1

• Allelic Composition: Mir218-1^em1Slp/Mir218-1^em1Slp; Mir218-2^em1Slp/Mir218-2^em1Slp
• Genetic Background: Not Specified

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

mortality/aging

neonatal lethality, complete penetrance ( J:227113 )

• die within minutes of caesarean delivery

respiratory system

respiratory failure ( J:227113 )

• at E18.5 following caesarean delivery

nervous system

abnormal motor neuron morphology ( J:227113 )

abnormal motor neuron innervation pattern ( J:227113 )

• most limb acetylcholine receptor positive clusters are aneural at E18.5

decreased motor neuron number ( J:227113 )

• 18 to 36% fewer motoneurons at cervical, thoracic, and lumbar spinal cord segments at E18.5

motor neuron degeneration ( J:227113 )

• normal motor neuron numbers at E12.5 and decreased numbers at E18.5 indicate neurodegenerative cell loss

abnormal motor neuron dendrite morphology ( J:227113 )

• motor axons appear to lack penetrating, fine intramuscular branches in limbs, the diaphragm, and intercostal muscles at E14.5

failure of neuromuscular synapse presynaptic differentiation ( J:227113 )

• failure of motor neurons to establish neuromuscular junctions

abnormal action potential ( J:227113 )

• action potentials are elicited by a rheobase current that is 4.4 times lower than in controls indicating membrane hyperexcitability in motor neurons

behavior/neurological

akinesia ( J:227113 )

• at E18.5 following caesarean delivery

hypoalgesia ( J:227113 )

• weak or absent responses to pain stimulation after caesarean delivery at E18.5

skeleton

kyphosis ( J:227113 )