Phenotypes associated with this allele

• Allele Symbol: Cfap276^em2.1Fuxi
• Allele Name: endonuclease-mediated mutation 2.1, Fu Xiong
• Allele ID: MGI:6473223
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cfap276^em2.1Fuxi/Cfap276^em2.1Fuxi	involves: C57BL/6J	MGI:6473225
ht2	Cfap276^em2.1Fuxi/Cfap276^+	involves: C57BL/6J	MGI:6473224

Genotype
MGI:6473225

hm1

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

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

mortality/aging

embryonic lethality, incomplete penetrance ( J:295996 )

• fewer than the expected number of births are observed (7% versus the expected 25%) with lethality between E7.5 and E15.5

growth/size/body

decreased embryo size ( J:295996 )

• E11.5 embryos are smaller

• some embryos that implant are smaller

embryo

abnormal embryo development ( J:295996 )

• while E7.5 embryos appear normal, E9.5 embryos fail to produce various tissue structures with disorganized intraluminal structures and an ambiguous boundary between the embryo and placenta

• primordial thoracic vertebrae, hind limbs, and other tissues are not observed at E10.5

• differentiation is abnormal at E7.5-E9.5

• E11.5 embryos show less abundant vasculature than wild-type embryos

decreased embryo size ( J:295996 )

• E11.5 embryos are smaller

• some embryos that implant are smaller

abnormal placenta morphology ( J:295996 )

• abnormalities in the structure of the placenta

• some embryos that implant lack a placental sac

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:295996 )

• mice start to exhibit motor defects at 4 months of age which are exacerbated with aging

hyporesponsive to tactile stimuli ( J:295996 )

• mice develop greater insensitivity to pain in the tail flick test starting at 4 months of age

limb grasping ( J:295996 )

• mice are completely unable to stretch their hind limbs, which droop without force, when suspended by their tail

impaired coordination ( J:295996 )

• mice show decreased time on the rotarod starting at 4 months of age

• in the wire hanging test, mice show a marked decline (shorter latency) in hanging ability starting at 4 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 6 months of age

• in the wire hanging test, mice show a marked decline (shorter latency) in hanging ability starting at 4 months of age

abnormal gait ( J:295996 )

• stride angle decreases with stride length after 8 months of age

short stride length ( J:295996 )

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

muscle

muscular atrophy ( J:295996 )

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

increased myelin sheath thickness ( J:295996 )

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

abnormal sciatic nerve morphology ( J:295996 )

• extensive demyelination and axonal damage in the sciatic nerve

• the number of mitochondria per axonal body is increased and swollen mitochondria with diminished vacuole content are seen in the sciatic nerve

• sciatic nerve fiber diameter is increased and the myelin sheath shows abnormal thickening

• mice show decreased internodal length and Schmidt-Lanterman incisures in the sciatic nerve

axon degeneration ( J:295996 )

• in sciatic nerve

demyelination ( J:295996 )

• extensive demyelination 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

reproductive system

impaired embryo implantation ( J:295996 )

• E11.5 embryos show implantation failure in the uterus although some embryos implant

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

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