Phenotypes associated with this allele

• Allele Symbol: Cfap276⁺
• Allele Name: wild type
• Allele ID: MGI:5482260
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Cfap276^em1Fuxi/Cfap276^+	C57BL/6J-Cfap276^em1Fuxi	MGI:6391017
ht2	Cfap276^em2.1Fuxi/Cfap276^+	involves: C57BL/6J	MGI:6473224

Genotype
MGI:6391017

ht1

• Allelic Composition: Cfap276^em1Fuxi/Cfap276⁺
• Genetic Background: C57BL/6J-Cfap276^em1Fuxi

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

behavior/neurological

limb grasping ( J:283448 )

• at age 4 months

impaired coordination ( J:283448 )

• reduced latency to fall in rotarod test at age 4 and 8 months

decreased grip strength ( J:283448 )

• at age 4 and 8 months

abnormal gait ( J:283448 )

• narrower hind limb stride width at age 4 months

• narrower hind limb stride angle at age 4 months

• less hind limb toe spreading at age 4 months

short stride length ( J:283448 )

• at age 4 months

paraparesis ( J:283448 )

• at age 4 months

muscle

skeletal muscle atrophy ( J:283448 )

• atrophy of the gastrocnemius muscle, with evidence of splitting myofibers, small clusters of angulated atrophic fibers and fatty infiltration

nervous system

abnormal internode morphology ( J:283448 )

• sciatic nerves show shortened internodal segments

abnormal myelin sheath morphology ( J:283448 )

increased myelin sheath thickness ( J:283448 )

• in sciatic nerve

abnormal sciatic nerve morphology ( J:283448 )

• sciatic nerves show demyelination, myelin sheath abnormalities, increases in the number of Schmidt-Lanterman incisures and internodal length, and reduced abundance of collage fibers surrounding the perineurium or among the myelin sheaths

axon degeneration ( J:283448 )

• in sciatic nerve

demyelination ( J:283448 )

• in the sciatic nerve

abnormal action potential ( J:283448 )

• reduced distal and proximal compound muscle action potential (CMAP)

growth/size/body

decreased body weight ( J:283448 )

Genotype
MGI:6473224

ht2

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

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