Phenotypes associated with this allele

• Allele Symbol: Fig4^plt1
• Allele Name: pale tremor
• Allele ID: MGI:3716838
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fig4^plt1/Fig4^plt1	B6.Cg-Fig4^plt1	MGI:5450834
hm2	Fig4^plt1/Fig4^plt1	involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL	MGI:5014490
hm3	Fig4^plt1/Fig4^plt1	involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL	MGI:3717180
hm4	Fig4^plt1/Fig4^plt1	involves: 129P2/OlaHsd * C3H * SJL	MGI:5554544
cx5	Fig4^plt1/Fig4^plt1 Tg(ACTB-Fig4*I41T)721Mm/0	involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL	MGI:5014492
cx6	Fig4^plt1/Fig4^plt1 Tg(ACTB-Fig4*I41T)705Mm/0	involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL	MGI:5014491
cx7	Fig4^plt1/Fig4^plt1 Tg(Eno2-Fig4)#Mm/?	involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL	MGI:5431084
cx8	Fig4^plt1/Fig4^plt1 Tg(GFAP-Fig4)#Mm/?	involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL	MGI:5431085

Genotype
MGI:5450834

hm1

• Allelic Composition: Fig4^plt1/Fig4^plt1
• Genetic Background: B6.Cg-Fig4^plt1

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

Presence of vacuoles in the atria of E18.5 Fig4^plt1/Fig4^plt1 mutants

cardiovascular system

abnormal heart atrium morphology ( J:190368 )

• significant degeneration of the atria with large, transparent vacuoles

Genotype
MGI:5014490

hm2

• Allelic Composition: Fig4^plt1/Fig4^plt1
• Genetic Background: involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL

mortality/aging

premature death ( J:173446 )

• survive to 1 -2 months of age

nervous system

abnormal brain morphology ( J:173446 )

• extensive autophagic inclusion bodies

astrocytosis ( J:173446 )

abnormal myelin sheath morphology ( J:173446 )

• thinning of the myelin sheath of the sciatic nerve

abnormal sciatic nerve morphology ( J:173446 )

• thinning of the myelin sheath of the sciatic nerve

neurodegeneration ( J:173446 )

• severe spongiform degeneration in the brain and extensive loss of neurons from the peripheral ganglia

neuron degeneration ( J:173446 )

• extensive loss of neurons from peripheral ganglia

• neurons in layers 4 and 5 of the cortex, the deep cerebellar nuclei, and the dorsal root ganglia are severely affected with accumulation of vacuoles that fill the cytoplasm

spongiform encephalopathy ( J:173446 )

decreased nerve conduction velocity ( J:173446 )

• in the sciatic nerve

pigmentation

diluted coat color ( J:173446 )

hypopigmentation ( J:173446 )

integument

diluted coat color ( J:173446 )

Genotype
MGI:3717180

hm3

• Allelic Composition: Fig4^plt1/Fig4^plt1
• Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL

mortality/aging

premature death ( J:122737 , J:185989 )

• all mice die by 6 weeks (J:122737)

• juvenile lethality at 6-8 weeks of age (J:185989)

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:185989 )

• severe movement disorder by 30 days of age

tremors ( J:122737 , J:185989 )

• by 30 days of age (J:185989)

impaired coordination ( J:122737 )

• progressive loss of mobility

abnormal limb posture ( J:122737 )

• at week 3

abnormal gait ( J:122737 )

• mice have a 'swimming' gait

nervous system

abnormal nervous system morphology ( J:185989 )

astrocytosis ( J:185989 )

abnormal motor neuron morphology ( J:122737 )

• at 6 weeks, spinal motor neurons accumulates vacuoles prior to cell loss

neuron degeneration ( J:122737 )

• visible at week 1, mice exhibit neonatal degeneration in sensory and autonomic ganglia with loss of neurons in from layers 4 and 5 of the cortex, deep cerebellar nuclei, thalamus, pons and medulla

abnormal sciatic nerve morphology ( J:122737 )

• mice exhibit fewer large-diameter myelinated axons

• sciatic nerve conduction velocity is slowed

• sciatic nerves have reduced amplitude of compound muscle action potential

spongiform encephalopathy ( J:185989 )

• in deep layers of cortex, cerebellar nuclei, hippocampus, brainstem, and dorsal root ganglia

demyelination ( J:185989 )

• reduced sciatic nerve myelination

• low abundance of myelin basic protein

abnormal action potential ( J:122737 )

• sciatic nerves have reduced amplitude of compound muscle action potential

abnormal nerve conduction ( J:122737 , J:185989 )

• sciatic nerve conduction velocity is slowed (J:122737)

• sciatic nerve conduction velocity reduced to 50% of velocity in control mice (J:185989)

muscle

muscle weakness ( J:122737 )

growth/size/body

decreased body size ( J:122737 )

• at P3

decreased body weight ( J:122737 )

hematopoietic system

spleen hypoplasia ( J:122737 )

• severe tremors develop 2 weeks after birth

immune system

spleen hypoplasia ( J:122737 )

• severe tremors develop 2 weeks after birth

pigmentation

diluted coat color ( J:122737 , J:185989 )

• at P3 (J:122737)

abnormal melanosome morphology ( J:122737 )

• clumps of melanosomes are visible in the few remaining pigmented hair follicles

integument

diluted coat color ( J:122737 , J:185989 )

• at P3 (J:122737)

abnormal hair follicle morphology ( J:122737 )

• clumps of melanosomes are visible in the few remaining pigmented hair follicles

decreased hair follicle number ( J:122737 )

• pigment containing hair follicles are decreased in number

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 4J		DOID:0110184	OMIM:611228	J:122737

Genotype
MGI:5554544

hm4

• Allelic Composition: Fig4^plt1/Fig4^plt1
• Genetic Background: involves: 129P2/OlaHsd * C3H * SJL

growth/size/body

long incisors ( J:203638 )

• relative overgrowth of incisors

decreased body weight ( J:203638 )

postnatal growth retardation ( J:203638 )

• impaired growth; skeleton is normal at birth but is smaller at P21

craniofacial

abnormal craniofacial morphology ( J:203638 )

• craniofacial morphology is altered

long incisors ( J:203638 )

• relative overgrowth of incisors

hematopoietic system

abnormal bone marrow cell morphology/development ( J:203638 )

• extensive vacuolization is seen in cultures of bone marrow mesenchymal stroma

skeleton

abnormal skeleton morphology ( J:203638 )

• skeleton is normal at birth but is smaller at P21

long incisors ( J:203638 )

• relative overgrowth of incisors

small clavicle ( J:203638 )

• clavicles are 20-25% smaller at P21 than in wild-type, however their shape is normal

• however, pelvic bone shape is normal in newborns and at P21

decreased length of long bones ( J:203638 )

• long bones are 20-25% smaller at P21 than in wild-type

abnormal bone structure ( J:203638 )

• bone volume fraction, bone surface, trabecular number and connectivity density are reduced to less than 50% of wild-type values

decreased bone volume ( J:203638 )

abnormal compact bone morphology ( J:203638 )

• lower cortical density of bones

decreased compact bone thickness ( J:203638 )

• femoral cortical thickness is reduced to less than 50% of wild-type values

abnormal osteoblast morphology ( J:203638 )

• extensive vacuolization is seen in cultures of isolated osteoblasts from calvarial tissue

abnormal trabecular bone morphology ( J:203638 )

• lower trabecular density of bones and reduction in size and density of trabeculae in vertebrae

• trabecular separation is increased more than 3-fold

decreased trabecular bone volume ( J:203638 )

decreased bone trabecula number ( J:203638 )

decreased trabecular bone connectivity density ( J:203638 )

abnormal bone ossification ( J:203638 )

limbs/digits/tail

limbs/digits/tail phenotype ( J:203638 )

N • mice do not exhibit aplasia or hypoplasia of digits on the front or rear limb

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Yunis-Varon syndrome		DOID:0060589	OMIM:216340	J:203638

Genotype
MGI:5014492

cx5

• Allelic Composition: Fig4^plt1/Fig4^plt1; Tg(ACTB-Fig4*I41T)721Mm/0
• Genetic Background: involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL

mortality/aging

mortality/aging ( J:173446 )

N • survival is completely corrected compared to Fig4 null mice not carrying the transgene

nervous system

nervous system phenotype ( J:173446 )

N • unlike in null mice not carrying the transgene, myelin sheath thinning is not seen

abnormal brain morphology ( J:173446 )

• a few autophagic inclusion bodies are present

hydrocephaly ( J:173446 )

enlarged lateral ventricles ( J:173446 )

astrocytosis ( J:173446 )

• astrocytosis is almost completely corrected compared to null mice not carrying the transgene

neurodegeneration ( J:173446 )

• minimal spongiform degeneration unlike in null mice not carrying the transgene

• unlike in null mice not carrying the transgene, dorsal root ganglia are intact at P90

• degeneration of the cerebellar nuclei

spongiform encephalopathy ( J:173446 )

• minimal

decreased nerve conduction velocity ( J:173446 )

• reduced at 4 and 14 months of age in the sciatic nerve but not as much as in null mice not carrying the transgene

pigmentation

hypopigmentation ( J:173446 )

• partial rescue of reduced pigmentation compared to null mice not carrying the transgene

Genotype
MGI:5014491

cx6

• Allelic Composition: Fig4^plt1/Fig4^plt1; Tg(ACTB-Fig4*I41T)705Mm/0
• Genetic Background: involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL

mortality/aging

premature death ( J:173446 )

• survival is increased to 3?6 months compared to from 1?2 months in Fig4 null mice not carrying the transgene

nervous system

nervous system phenotype ( J:173446 )

N • unlike in null mice not carrying the transgene, myelin sheath thinning is not seen

abnormal brain morphology ( J:173446 )

• intermediate level of autophagic inclusion bodies

hydrocephaly ( J:173446 )

• high pressure hydrocephalus is indicated by the compression of the cerebellum and hippocampus

enlarged lateral ventricles ( J:173446 )

astrocytosis ( J:173446 )

• intermediate level compared to null mice not carrying the transgene

neurodegeneration ( J:173446 )

• intermediate level of degeneration compared to null mice not carrying the transgene

• degeneration of the cerebellar nuclei

spongiform encephalopathy ( J:173446 )

decreased nerve conduction velocity ( J:173446 )

• reduced at 4 and 14 months of age in the sciatic nerve but not as much as in null mice not carrying the transgene

craniofacial

domed cranium ( J:173446 )

integument

diluted coat color ( J:173446 )

pigmentation

diluted coat color ( J:173446 )

hypopigmentation ( J:173446 )

skeleton

domed cranium ( J:173446 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 4J		DOID:0110184	OMIM:611228	J:173446

Genotype
MGI:5431084

cx7

• Allelic Composition: Fig4^plt1/Fig4^plt1; Tg(Eno2-Fig4)#Mm/?
• Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL

mortality/aging

premature death ( J:185989 )

• 65% of mice live 10 months or more

growth/size/body

abnormal postnatal growth ( J:185989 )

• growth rate is improved during the first month relative to Fig4^plt1 homozygotes

nervous system

nervous system phenotype ( J:185989 )

N • spongiform degeneration corrected at 3 weeks of age and in mice 9 and 12 months old

N • dorsal root ganglion spongiform degeneration also improved

N • sciatic nerve conduction velocity normal

N • normal sciatic nerve myelination

Genotype
MGI:5431085

cx8

• Allelic Composition: Fig4^plt1/Fig4^plt1; Tg(GFAP-Fig4)#Mm/?
• Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL

mortality/aging

premature death ( J:185989 )

• survival not corrected relative to Fig4^plt1 homozygotes

growth/size/body

abnormal postnatal growth ( J:185989 )

• growth not corrected relative to Fig4^plt1 homozygotes

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:185989 )

• severe movement disorder by 30 days of age

tremors ( J:185989 )

• by 30 days of age

nervous system

nervous system phenotype ( J:185989 )

N • astrogliosis mostly corrected

spongiform encephalopathy ( J:185989 )

• extensive

demyelination ( J:185989 )

• reduced sciatic nerve myelination

• low abundance of myelin basic protein