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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Fig4plt1
pale tremor
MGI:3716838
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Fig4plt1/Fig4plt1 B6.Cg-Fig4plt1 MGI:5450834
hm2
 		Fig4plt1/Fig4plt1 involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL MGI:5014490
hm3
 		Fig4plt1/Fig4plt1 involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL MGI:3717180
hm4
 		Fig4plt1/Fig4plt1 involves: 129P2/OlaHsd * C3H * SJL MGI:5554544
cx5
 		Fig4plt1/Fig4plt1
Tg(ACTB-Fig4*I41T)721Mm/0 		involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL MGI:5014492
cx6
 		Fig4plt1/Fig4plt1
Tg(ACTB-Fig4*I41T)705Mm/0 		involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL MGI:5014491
cx7
 		Fig4plt1/Fig4plt1
Tg(Eno2-Fig4)#Mm/? 		involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL MGI:5431084
cx8
 		Fig4plt1/Fig4plt1
Tg(GFAP-Fig4)#Mm/? 		involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL MGI:5431085


Genotype
MGI:5450834
hm1
Allelic
Composition		 Fig4plt1/Fig4plt1
Genetic
Background		 B6.Cg-Fig4plt1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fig4plt1 mutation (2 available); any Fig4 mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Presence of vacuoles in the atria of E18.5 Fig4plt1/Fig4plt1 mutants

cardiovascular system
abnormal heart atrium morphology ( J:190368 )
• significant degeneration of the atria with large, transparent vacuoles




Genotype
MGI:5014490
hm2
Allelic
Composition		 Fig4plt1/Fig4plt1
Genetic
Background		 involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fig4plt1 mutation (2 available); any Fig4 mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:173446 )
• survive to 1 -2 months of age

nervous system
abnormal brain morphology ( J:173446 )
• extensive autophagic inclusion bodies
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
decreased nerve conduction velocity ( J:173446 )
• in the sciatic nerve

pigmentation

integument




Genotype
MGI:3717180
hm3
Allelic
Composition		 Fig4plt1/Fig4plt1
Genetic
Background		 involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fig4plt1 mutation (2 available); any Fig4 mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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 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

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		 Fig4plt1/Fig4plt1
Genetic
Background		 involves: 129P2/OlaHsd * C3H * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fig4plt1 mutation (2 available); any Fig4 mutation (51 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
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

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		 Fig4plt1/Fig4plt1
Tg(ACTB-Fig4*I41T)721Mm/0
Genetic
Background		 involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fig4plt1 mutation (2 available); any Fig4 mutation (51 available)
Tg(ACTB-Fig4*I41T)721Mm mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
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
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		 Fig4plt1/Fig4plt1
Tg(ACTB-Fig4*I41T)705Mm/0
Genetic
Background		 involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fig4plt1 mutation (2 available); any Fig4 mutation (51 available)
Tg(ACTB-Fig4*I41T)705Mm mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
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
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

integument

pigmentation

skeleton

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		 Fig4plt1/Fig4plt1
Tg(Eno2-Fig4)#Mm/?
Genetic
Background		 involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fig4plt1 mutation (2 available); any Fig4 mutation (51 available)
Tg(Eno2-Fig4)#Mm mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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 Fig4plt1 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
• dorsal root ganglion spongiform degeneration also improved
• sciatic nerve conduction velocity normal
• normal sciatic nerve myelination




Genotype
MGI:5431085
cx8
Allelic
Composition		 Fig4plt1/Fig4plt1
Tg(GFAP-Fig4)#Mm/?
Genetic
Background		 involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fig4plt1 mutation (2 available); any Fig4 mutation (51 available)
Tg(GFAP-Fig4)#Mm mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:185989 )
• survival not corrected relative to Fig4plt1 homozygotes

growth/size/body
abnormal postnatal growth ( J:185989 )
• growth not corrected relative to Fig4plt1 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
demyelination ( J:185989 )
• reduced sciatic nerve myelination
• low abundance of myelin basic protein




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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory