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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)705Mm/0
involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL MGI:5014491
cx6
Fig4plt1/Fig4plt1
Tg(ACTB-Fig4*I41T)721Mm/0
involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL MGI:5014492
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 (15 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
• significant degeneration of the atria with large, transparent vacuoles (J:190368)
• significant degeneration of the atria with large, transparent vacuoles (J:190368)




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 (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• survive to 1 -2 months of age (J:173446)
• survive to 1 -2 months of age (J:173446)

nervous system
• extensive autophagic inclusion bodies (J:173446)
• extensive autophagic inclusion bodies (J:173446)
• thinning of the myelin sheath of the sciatic nerve (J:173446)
• thinning of the myelin sheath of the sciatic nerve (J:173446)
• thinning of the myelin sheath of the sciatic nerve (J:173446)
• thinning of the myelin sheath of the sciatic nerve (J:173446)
• severe spongiform degeneration in the brain and extensive loss of neurons from the peripheral ganglia (J:173446)
• severe spongiform degeneration in the brain and extensive loss of neurons from the peripheral ganglia (J:173446)
• extensive loss of neurons from peripheral ganglia (J:173446)
• 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 (J:173446)
• extensive loss of neurons from peripheral ganglia (J:173446)
• 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 (J:173446)
• in the sciatic nerve (J:173446)
• in the sciatic nerve (J:173446)

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 (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die by 6 weeks (J:122737)
• all mice die by 6 weeks (J:122737)
• juvenile lethality at 6-8 weeks of age (J:185989)
• juvenile lethality at 6-8 weeks of age (J:185989)

behavior/neurological
• severe movement disorder by 30 days of age (J:185989)
• severe movement disorder by 30 days of age (J:185989)
• by 30 days of age (J:185989)
• by 30 days of age (J:185989)
• progressive loss of mobility (J:122737)
• progressive loss of mobility (J:122737)
• at week 3 (J:122737)
• at week 3 (J:122737)
• mice have a 'swimming' gait (J:122737)
• mice have a 'swimming' gait (J:122737)

nervous system
• at 6 weeks, spinal motor neurons accumulates vacuoles prior to cell loss (J:122737)
• at 6 weeks, spinal motor neurons accumulates vacuoles prior to cell loss (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 (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 (J:122737)
• mice exhibit fewer large-diameter myelinated axons (J:122737)
• sciatic nerve conduction velocity is slowed (J:122737)
• sciatic nerves have reduced amplitude of compound muscle action potential (J:122737)
• mice exhibit fewer large-diameter myelinated axons (J:122737)
• sciatic nerve conduction velocity is slowed (J:122737)
• sciatic nerves have reduced amplitude of compound muscle action potential (J:122737)
• in deep layers of cortex, cerebellar nuclei, hippocampus, brainstem, and dorsal root ganglia (J:185989)
• in deep layers of cortex, cerebellar nuclei, hippocampus, brainstem, and dorsal root ganglia (J:185989)
• reduced sciatic nerve myelination (J:185989)
• low abundance of myelin basic protein (J:185989)
• reduced sciatic nerve myelination (J:185989)
• low abundance of myelin basic protein (J:185989)
• sciatic nerves have reduced amplitude of compound muscle action potential (J:122737)
• sciatic nerves have reduced amplitude of compound muscle action potential (J:122737)
• sciatic nerve conduction velocity is slowed (J:122737)
• sciatic nerve conduction velocity is slowed (J:122737)
• sciatic nerve conduction velocity reduced to 50% of velocity in control mice (J:185989)
• sciatic nerve conduction velocity reduced to 50% of velocity in control mice (J:185989)

muscle

growth/size/body
• at P3 (J:122737)
• at P3 (J:122737)

hematopoietic system
• severe tremors develop 2 weeks after birth (J:122737)
• severe tremors develop 2 weeks after birth (J:122737)

immune system
• severe tremors develop 2 weeks after birth (J:122737)
• severe tremors develop 2 weeks after birth (J:122737)

pigmentation
• at P3 (J:122737)
• at P3 (J:122737)
• clumps of melanosomes are visible in the few remaining pigmented hair follicles (J:122737)
• clumps of melanosomes are visible in the few remaining pigmented hair follicles (J:122737)

integument
• at P3 (J:122737)
• at P3 (J:122737)
• clumps of melanosomes are visible in the few remaining pigmented hair follicles (J:122737)
• clumps of melanosomes are visible in the few remaining pigmented hair follicles (J:122737)
• pigment containing hair follicles are decreased in number (J:122737)
• pigment containing hair follicles are decreased in number (J:122737)

Mouse Models of Human Disease
OMIM ID Ref(s)
Charcot-Marie-Tooth Disease, Type 4j; CMT4J 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 (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• relative overgrowth of incisors (J:203638)
• relative overgrowth of incisors (J:203638)
• impaired growth; skeleton is normal at birth but is smaller at P21 (J:203638)
• impaired growth; skeleton is normal at birth but is smaller at P21 (J:203638)

craniofacial
• craniofacial morphology is altered (J:203638)
• craniofacial morphology is altered (J:203638)
• relative overgrowth of incisors (J:203638)
• relative overgrowth of incisors (J:203638)

hematopoietic system
• extensive vacuolization is seen in cultures of bone marrow mesenchymal stroma (J:203638)
• extensive vacuolization is seen in cultures of bone marrow mesenchymal stroma (J:203638)

skeleton
• skeleton is normal at birth but is smaller at P21 (J:203638)
• skeleton is normal at birth but is smaller at P21 (J:203638)
• clavicles are 20-25% smaller at P21 than in wild-type, however their shape is normal (J:203638)
• however, pelvic bone shape is normal in newborns and at P21 (J:203638)
• clavicles are 20-25% smaller at P21 than in wild-type, however their shape is normal (J:203638)
• however, pelvic bone shape is normal in newborns and at P21 (J:203638)
• long bones are 20-25% smaller at P21 than in wild-type (J:203638)
• long bones are 20-25% smaller at P21 than in wild-type (J:203638)
• bone volume fraction, bone surface, trabecular number and connectivity density are reduced to less than 50% of wild-type values (J:203638)
• bone volume fraction, bone surface, trabecular number and connectivity density are reduced to less than 50% of wild-type values (J:203638)
• lower cortical density of bones (J:203638)
• lower cortical density of bones (J:203638)
• femoral cortical thickness is reduced to less than 50% of wild-type values (J:203638)
• femoral cortical thickness is reduced to less than 50% of wild-type values (J:203638)
• extensive vacuolization is seen in cultures of isolated osteoblasts from calvarial tissue (J:203638)
• extensive vacuolization is seen in cultures of isolated osteoblasts from calvarial tissue (J:203638)
• lower trabecular density of bones and reduction in size and density of trabeculae in vertebrae (J:203638)
• trabecular separation is increased more than 3-fold (J:203638)
• lower trabecular density of bones and reduction in size and density of trabeculae in vertebrae (J:203638)
• trabecular separation is increased more than 3-fold (J:203638)

limbs/digits/tail
N
• mice do not exhibit aplasia or hypoplasia of digits on the front or rear limb (J:203638)
• mice do not exhibit aplasia or hypoplasia of digits on the front or rear limb (J:203638)

Mouse Models of Human Disease
OMIM ID Ref(s)
Yunis-Varon Syndrome; YVS 216340 J:203638




Genotype
MGI:5014491
cx5
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 (15 available)
Tg(ACTB-Fig4*I41T)705Mm mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• survival is increased to 3?6 months compared to from 1?2 months in Fig4 null mice not carrying the transgene (J:173446)
• survival is increased to 3?6 months compared to from 1?2 months in Fig4 null mice not carrying the transgene (J:173446)

nervous system
N
• unlike in null mice not carrying the transgene, myelin sheath thinning is not seen (J:173446)
• unlike in null mice not carrying the transgene, myelin sheath thinning is not seen (J:173446)
• intermediate level of autophagic inclusion bodies (J:173446)
• intermediate level of autophagic inclusion bodies (J:173446)
• high pressure hydrocephalus is indicated by the compression of the cerebellum and hippocampus (J:173446)
• high pressure hydrocephalus is indicated by the compression of the cerebellum and hippocampus (J:173446)
• intermediate level compared to null mice not carrying the transgene (J:173446)
• intermediate level compared to null mice not carrying the transgene (J:173446)
• intermediate level of degeneration compared to null mice not carrying the transgene (J:173446)
• degeneration of the cerebellar nuclei (J:173446)
• intermediate level of degeneration compared to null mice not carrying the transgene (J:173446)
• degeneration of the cerebellar nuclei (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 (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 (J:173446)

craniofacial

integument

pigmentation

skeleton

Mouse Models of Human Disease
OMIM ID Ref(s)
Charcot-Marie-Tooth Disease, Type 4j; CMT4J 611228 J:173446




Genotype
MGI:5014492
cx6
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 (15 available)
Tg(ACTB-Fig4*I41T)721Mm mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• survival is completely corrected compared to Fig4 null mice not carrying the transgene (J:173446)
• survival is completely corrected compared to Fig4 null mice not carrying the transgene (J:173446)

nervous system
N
• unlike in null mice not carrying the transgene, myelin sheath thinning is not seen (J:173446)
• unlike in null mice not carrying the transgene, myelin sheath thinning is not seen (J:173446)
• a few autophagic inclusion bodies are present (J:173446)
• a few autophagic inclusion bodies are present (J:173446)
• astrocytosis is almost completely corrected compared to null mice not carrying the transgene (J:173446)
• astrocytosis is almost completely corrected compared to null mice not carrying the transgene (J:173446)
• minimal spongiform degeneration unlike in null mice not carrying the transgene (J:173446)
• unlike in null mice not carrying the transgene, dorsal root ganglia are intact at P90 (J:173446)
• degeneration of the cerebellar nuclei (J:173446)
• minimal spongiform degeneration unlike in null mice not carrying the transgene (J:173446)
• unlike in null mice not carrying the transgene, dorsal root ganglia are intact at P90 (J:173446)
• degeneration of the cerebellar nuclei (J:173446)
• minimal (J:173446)
• minimal (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 (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 (J:173446)

pigmentation
• partial rescue of reduced pigmentation compared to null mice not carrying the transgene (J:173446)
• partial rescue of reduced pigmentation compared to null mice not carrying the transgene (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 (15 available)
Tg(Eno2-Fig4)#Mm mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 65% of mice live 10 months or more (J:185989)
• 65% of mice live 10 months or more (J:185989)

growth/size/body
• growth rate is improved during the first month relative to Fig4plt1 homozygotes (J:185989)
• growth rate is improved during the first month relative to Fig4plt1 homozygotes (J:185989)

nervous system
N
• spongiform degeneration corrected at 3 weeks of age and in mice 9 and 12 months old (J:185989)
• dorsal root ganglion spongiform degeneration also improved (J:185989)
• sciatic nerve conduction velocity normal (J:185989)
• normal sciatic nerve myelination (J:185989)
• spongiform degeneration corrected at 3 weeks of age and in mice 9 and 12 months old (J:185989)
• dorsal root ganglion spongiform degeneration also improved (J:185989)
• sciatic nerve conduction velocity normal (J:185989)
• normal sciatic nerve myelination (J:185989)




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 (15 available)
Tg(GFAP-Fig4)#Mm mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• survival not corrected relative to Fig4plt1 homozygotes (J:185989)
• survival not corrected relative to Fig4plt1 homozygotes (J:185989)

growth/size/body
• growth not corrected relative to Fig4plt1 homozygotes (J:185989)
• growth not corrected relative to Fig4plt1 homozygotes (J:185989)

behavior/neurological
• severe movement disorder by 30 days of age (J:185989)
• severe movement disorder by 30 days of age (J:185989)
• by 30 days of age (J:185989)
• by 30 days of age (J:185989)

nervous system
N
• astrogliosis mostly corrected (J:185989)
• astrogliosis mostly corrected (J:185989)
• extensive (J:185989)
• extensive (J:185989)
• reduced sciatic nerve myelination (J:185989)
• low abundance of myelin basic protein (J:185989)
• reduced sciatic nerve myelination (J:185989)
• low abundance of myelin basic protein (J:185989)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory