Phenotypes Associated with This Genotype

Genotype
MGI:6473224

• Allelic Composition: Cfap276^em2.1Fuxi/Cfap276⁺
• Genetic Background: involves: C57BL/6J

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

behavior/neurological

hyporesponsive to tactile stimuli ( J:295996 )

• mice develop greater insensitivity to pain in the tail flick test starting at 6 months of age

limb grasping ( J:295996 )

• mice are unable to properly unfold hind limbs when suspended by their tail and struggle only weakly

impaired coordination ( J:295996 )

• mice show decreased time on the rotarod starting at 6 months of age

• in the wire hanging test, mice show a decline in hanging ability (shorter latency) starting at 6 months of age

abnormal physical strength ( J:295996 )

• blurred footprints indicating lower hind limb strength and motor deficit

decreased grip strength ( J:295996 )

• reduction in grip strength starting at 8 months of age

• in the wire hanging test, mice show a decline in hanging ability (shorter latency) starting at 6 months of age

short stride length ( J:295996 )

• average stride length is shorter starting at 4 months of age

muscle

skeletal muscle fiber atrophy ( J:295996 )

• gastrocnemius muscle shows necrotic, atrophied and rimmed vacuoles

nervous system

decreased motor neuron number ( J:295996 )

• mice exhibit fewer motor neurons in the anterior horn of the spinal cord

abnormal internode morphology ( J:295996 )

• mice show shorter internodal length between nodes of Ranvier and Schmidt-Lanterman incisures in the sciatic nerve

abnormal myelin sheath morphology ( J:295996 )

• mice show increased myelin thickness and gaps in the myelin sheath of peripheral nerve fibers, indicating a loss of myelin compaction

increased myelin sheath thickness ( J:295996 )

• reduction in the G ratio indicates an increased thickness of myelin sheath in the sciatic nerve

demyelination ( J:295996 )

• seen in the sciatic nerve

• demyelination rate is increased in the sciatic nerve

abnormal action potential ( J:295996 )

• sciatic nerve shows decreased compound muscle action potential amplitude

decreased nerve conduction velocity ( J:295996 )

• sciatic nerve shows decreased nerve conduction velocity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease intermediate type		DOID:0050543		J:295996