Phenotypes Associated with This Genotype

Genotype
MGI:5314815

• Allelic Composition: Chrne^tm2Vwi/Chrne^tm2Vwi
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

behavior/neurological

decreased grip strength ( J:182046 )

• 13% reduction in forelimb grip strength

abnormal vocalization ( J:182046 )

• develop a whistling noise during exercise or when excited

respiratory system

abnormal respiratory sounds ( J:182046 )

• develop a whistling noise during exercise or when excited possibly due to respiratory muscle deficiency

nervous system

abnormal neuromuscular synapse morphology ( J:182046 )

• postsynaptic membrane thinner due to loss of acetylcholine receptors

• decreased receptor density in neuromuscular junctions of Soleus

• fragmented presynaptic and postsynaptic organization in Soleus

abnormal PNS synaptic transmission ( J:182046 )

• prolonged tau values for miniature end plate currents in triangularis sterni muscle

abnormal miniature endplate potential ( J:182046 )

• prolonged evoked end plate potentials with progressive summation

• increased potentials and prolonged decay times in Extensor digitorum longus

• Soleus decay times prolonged

muscle

abnormal skeletal muscle fiber morphology ( J:182046 )

• simplified postsynaptic gutter in soleus muscle and loss of junctional folds

• accumulation of vesicles in postsynaptic sarcoplasm of Soleus muscle fibers

• degenerating nuclei in Soleus muscle fibers, apoptotic nuclei

• atrophic Soleus muscle fibers

• accumulation of empty vesicles in Extensor digitorum longus fibers

impaired skeletal muscle contractility ( J:182046 )

• tetanic muscle contractions develop less force than in controls

• tetanic contractions fade at stimulus frequencies of 150Hz

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital myasthenic syndrome 4A		DOID:0110678	OMIM:605809	J:182046