Phenotypes associated with this allele

• Allele Symbol: Cfap276^em1Fuxi
• Allele Name: endonuclease-mediated mutation 1, Fu Xiong
• Allele ID: MGI:6390920
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cfap276^em1Fuxi/Cfap276^em1Fuxi	C57BL/6J-Cfap276^em1Fuxi	MGI:6391016
ht2	Cfap276^em1Fuxi/Cfap276^+	C57BL/6J-Cfap276^em1Fuxi	MGI:6391017

Genotype
MGI:6391016

hm1

• Allelic Composition: Cfap276^em1Fuxi/Cfap276^em1Fuxi
• 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

growth/size/body

decreased body weight ( J:283448 )

nervous system

abnormal internode morphology ( J:283448 )

• sciatic nerves show shortened internodal segments

abnormal myelin sheath morphology ( J:283448 )

• sciatic nerve shows extensive breakdown of compact myelin and abnormal infolding of the splitting myelin sheath

increased myelin sheath thickness ( J:283448 )

• sciatic nerve shows an increase in myelin thickness

abnormal sciatic nerve morphology ( J:283448 )

• sciatic nerves show demyelination, myelin sheath abnormalities, increases in the number of Schmidt-Lanterman incisures and internodal length

axon degeneration ( J:283448 )

• in sciatic nerve

demyelination ( J:283448 )

• in the sciatic nerve

Genotype
MGI:6391017

ht2

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

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 )