Phenotypes Associated with This Genotype

Genotype
MGI:2429569

• Allelic Composition: Tbce^pmn/Tbce^pmn
• Genetic Background: NMRI/Pan

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

mortality/aging

premature death ( J:1717 , J:30914 )

• survival is prolonged by injections of ciliary neutrophic factor (CNTF) delivered via an engineered CNTF construct in tranfected mouse D3 cells (J:1717)

• mice die by 6-7 weeks of age (J:30914)

muscle

muscular atrophy ( J:30914 )

• pelvic girdle and hind limb muscles atrophy and become paralytic; atrophy and paralysis of the forelimbs and respiratory musculature follow later

• skeletal muscle atrophy is caused by denervation

progressive muscle weakness ( J:1717 )

• in hindlimbs by the end of post-natal week three

• motor function is improved after injection of ciliary neutrophic factor (CNTF) delivered via an engineered CNTF construct in tranfected mouse D3 cells

nervous system

motor neuron degeneration ( J:1717 )

• progressive caudo-cranial degeneration

abnormal facial nerve morphology ( J:1717 )

• loss of motor axons here is reduced by ciliary neutrophic factor (CNTF) delivered via an engineered CNTF construct in tranfected mouse D3 cells

abnormal phrenic nerve morphology ( J:1717 )

• 30% of nerve fibers are lost by 28 days of age

• loss of motor axons here is reduced by ciliary neutrophic factor (CNTF) delivered via an engineered CNTF construct in tranfected mouse D3 cells

axon degeneration ( J:30914 )

• the motor, but not the sensory, axons of the peripheral nerves degenerate, starting at the motor endplates and dying back proximally

respiratory system

respiratory failure ( J:1717 , J:30914 )

• mice die of respiratory failure by 6-7 weeks of age (J:30914)

behavior/neurological

paralysis ( J:30914 )

• detectable by 2-3 weeks of age