Phenotypes associated with this allele

• Allele Symbol: Plp1^jp-rsh
• Allele Name: rumpshaker
• Allele ID: MGI:1856067
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Plp1^jp-rsh/Plp1^jp-rsh	C3H * C57BL/6 * STOCK Rb(1.3)1Bnr	MGI:4849548
hm2	Plp1^jp-rsh/Plp1^jp-rsh	involves: 101 * C3H	MGI:3033752
hm3	Plp1^jp-rsh/Plp1^jp-rsh	involves: 101/H * C3H	MGI:4834559
ht4	Plp1^jp-rsh/Plp1^+	either: STOCK Rb(1.3)1Bnr or (involves: BALB/c * DBA/2 * STOCK Rb(1.3)1Bnr)	MGI:4443123
cx5	Casp12^tm1Yuan/Casp12^tm1Yuan Plp1^jp-rsh/Y	involves: 129S4/SvJae * C3H * C57BL/6 * STOCK Rb(1.3)1Bnr	MGI:3711155
ot6	Plp1^jp-rsh/Y	C3H * C57BL/6 * STOCK Rb(1.3)1Bnr	MGI:4849545
ot7	Plp1^jp-rsh/Y	involves: 101 * C3H	MGI:3033753
ot8	Plp1^jp-rsh/Y	involves: C3H * C57BL/6 * STOCK Rb(1.3)1Bnr	MGI:3711148
ot9	Plp1^jp-rsh/Y	involves: C57BL/6NCrl	MGI:3033770

Genotype
MGI:4849548

hm1

• Allelic Composition: Plp1^jp-rsh/Plp1^jp-rsh
• Genetic Background: C3H * C57BL/6 * STOCK Rb(1.3)1Bnr

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

homeostasis/metabolism

abnormal phospholipid level ( J:31089 )

♀ • HPTLC of brain homogenates reveals lower than normal levels of the glycolipids cerebroside and sulfatide and analysis of myelin shows this decrease in cerebroside and sulfatide is offset by an increase in cholesterol

nervous system

abnormal myelin sheath morphology ( J:31089 )

♀ • although electron microscopy shows that normal radial component is retained, X-ray diffraction of optic nerves shows an increase in period to a range of 162-169 Angstroms, reduced stability compared with wild-type optic nerve myelin, increased swelling under swelling conditions and less than normal compaction under compating conditions

Genotype
MGI:3033752

hm2

• Allelic Composition: Plp1^jp-rsh/Plp1^jp-rsh
• Genetic Background: involves: 101 * C3H

behavior/neurological

behavior/neurological phenotype ( J:14143 )

♀N • Background Sensitivity: mice do not develop seizures on a background involving 101 and C3H

tremors ( J:10575 , J:14143 )

♀ • generalized tremors during locomotion, that in some cases become confined to the hindquarters with age (J:10575)

♀ • detectable at about 12 days of age (J:14143)

♀ • evident at weaning and in young adults, but tends to decline with age (J:14143)

growth/size/body

growth/size/body region phenotype ( J:14143 )

♀N • mice are of normal size

reproductive system

reproductive system phenotype ( J:14143 )

♀N • females are fully fertile

nervous system

abnormal astrocyte morphology ( J:10575 )

♀ • ~40% increase in the number of astrocytes

increased oligodendrocyte number ( J:10575 )

♀ • while some ultrastructural abnormalities were detected, degenerative changes and cell death were uncommon

♀ • ~130% increase in the number of oligodendrocytes

demyelination ( J:10575 , J:14143 )

♀ • myelination commences, but the majority of sheaths fail to develop normally (J:10575)

♀ • severe generalized hypomyelination (J:14143)

Genotype
MGI:4834559

hm3

• Allelic Composition: Plp1^jp-rsh/Plp1^jp-rsh
• Genetic Background: involves: 101/H * C3H

immune system

decreased susceptibility to Picornaviridae infection ( J:41447 )

♀ • following infection with Theiler's murine encephalomyelitis virus (TMEV), mice exhibit no viral RNA or signs of infection in the spinal cord unlike similarly treated wild-type mice

Genotype
MGI:4443123

ht4

• Allelic Composition: Plp1^jp-rsh/Plp1⁺
• Genetic Background: either: STOCK Rb(1.3)1Bnr or (involves: BALB/c * DBA/2 * STOCK Rb(1.3)1Bnr)

nervous system

abnormal microglial cell morphology ( J:604 )

♀ • activated microglia containing lipid and/or membranous inclusions are found, although they are not a marked feature, and there appears to be an increase in glial cell number at 50 and 90 days of age

abnormal oligodendrocyte morphology ( J:604 )

♀ • although degenerative changes are not found in either oligodendrocytes or astrocytes, many oligodendrocytes appear to be metabolically active, having prominant rough endoplasmic reticulum and Golgi apparatus, and there is an increase in oligodendrocyte number although to a lesser degree than in hemizyogus males

increased oligodendrocyte number ( J:604 )

♀

abnormal myelination ( J:604 )

♀ • the spinal cord has some sheaths with uncompacted myelin or intramyelinic vacuolation and folds of redundant myelin are more common than in wild-type males

demyelination ( J:604 )

♀ • spinal cord of heterozygous females has fibres with disproportionately thin myelin sheaths for the axon diameters although no large hypomyelinated patches are found, the mean myelin thickness in adult ventral columns is reduced, and naked axons can be found in the ventral columns of younger mice but are infrequent in older mice

♀ • optic nerve has lower myelin density, although the mean myelin thickness and axon diameter are normal

hematopoietic system

abnormal microglial cell morphology ( J:604 )

♀ • activated microglia containing lipid and/or membranous inclusions are found, although they are not a marked feature, and there appears to be an increase in glial cell number at 50 and 90 days of age

immune system

abnormal microglial cell morphology ( J:604 )

♀ • activated microglia containing lipid and/or membranous inclusions are found, although they are not a marked feature, and there appears to be an increase in glial cell number at 50 and 90 days of age

Genotype
MGI:3711155

cx5

• Allelic Composition: Casp12^tm1Yuan/Casp12^tm1Yuan; Plp1^jp-rsh/Y
• Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6 * STOCK Rb(1.3)1Bnr

behavior/neurological

abnormal locomotor coordination ( J:121540 )

♂ • mice performed initially poorly but eventually were indistinguishable from controls

cellular

increased apoptosis ( J:121540 )

♂ • similar increase in apoptosis levels as seen in Plp1^jp-rsh/Y mice (average tunnel count of 42+/-4) but is greater than in Casp12^tm1Yuan homozygotes

Genotype
MGI:4849545

ot6

• Allelic Composition: Plp1^jp-rsh/Y
• Genetic Background: C3H * C57BL/6 * STOCK Rb(1.3)1Bnr

nervous system

abnormal myelin sheath morphology ( J:31089 )

♂ • X-ray diffraction of optic nerve shows a profound lack of well-ordered myelin

demyelination ( J:31089 )

♂ • X-ray diffraction of optic nerves indicates a reduction in myelin by as much as 90%, which is more severe than the estimate resulting from morphometric measurements of myelin thickness in spinal cord

Genotype
MGI:3033753

ot7

• Allelic Composition: Plp1^jp-rsh/Y
• Genetic Background: involves: 101 * C3H

behavior/neurological

behavior/neurological phenotype ( J:14143 )

♂N • Background Sensitivity: mice do not develop seizures on a background involving 101 and C3H

tremors ( J:10575 , J:14143 , J:88023 )

♂ • generalized tremors during locomotion, that in some cases become confined to the hindquarters with age (J:10575)

♂ • detectable at about 12 days of age (J:14143)

♂ • evident at weaning and in young adults, but tends to decline with age (J:14143)

♂ (J:88023)

impaired coordination ( J:88023 )

♂ • Background Sensitivity: locomotor activity on an accelerating rotarod is impaired; mutants on a 101 and C3H background are less impaired than mutants on a C57BL/6NCrl background

growth/size/body

growth/size/body region phenotype ( J:14143 )

♂N • mice are of normal size

reproductive system

reproductive system phenotype ( J:14143 )

♂N • males are fully fertile

nervous system

abnormal brain development ( J:88023 )

♂ • Background Sensitivity: increase in the number and proliferation of NG2+ oligodendrocyte progenitors between P15-P30, to a smaller extent than on C57BL/6NCrl background, however overall numbers of mature oligodendrocytes are normal

abnormal glial cell morphology ( J:88023 )

♂ • Background Sensitivity: increase in the number of apoptotic glia, with a smaller increase on the 101 and C3H background than on a C57BL/6NCrl background

abnormal astrocyte morphology ( J:10575 )

♂ • ~40% increase in the number of astrocytes

astrocytosis ( J:88023 )

♂

increased oligodendrocyte number ( J:10575 )

♂ • while some ultrastructural abnormalities were detected, degenerative changes and cell death were uncommon

♂ • ~130% increase in the number of oligodendrocytes

demyelination ( J:10575 , J:14143 , J:88023 )

♂ • myelination commences, but the majority of sheaths fail to develop normally (J:10575)

♂ • severe generalized hypomyelination (J:14143)

♂ • Background Sensitivity: proportion of myelinated axons is reduced; myelination is reduced to a greater extent on the C57BL/6NCrl background than on a 101 and C3H background (J:88023)

dysmyelination ( J:229229 )

♂ • mild hypomyelination

abnormal axonal transport ( J:229229 )

♂ • mice exhibit a small number of CtB foci, indicating local impairment of retrograde axonal transport in optic nerve at P120

Genotype
MGI:3711148

ot8

• Allelic Composition: Plp1^jp-rsh/Y
• Genetic Background: involves: C3H * C57BL/6 * STOCK Rb(1.3)1Bnr

behavior/neurological

abnormal locomotor coordination ( J:121540 )

♂ • mice performed initially poorly but eventually were indistinguishable from controls

cellular

increased apoptosis ( J:121540 )

♂ • average tunnel count of 37+/-4

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pelizaeus-Merzbacher disease		DOID:3210	OMIM:312080	J:121540

Genotype
MGI:3033770

ot9

• Allelic Composition: Plp1^jp-rsh/Y
• Genetic Background: involves: C57BL/6NCrl

mortality/aging

premature death ( J:88023 )

♂ • Background Sensitivity: majority die between 28-32 days of age on a C57BL/6NCrl background but not a mixed background involving 101 and C3H

behavior/neurological

tremors ( J:88023 )

♂ • Background Sensitivity: develop tremors, with a greater degree of shaking at 3-4 weeks than on a mixed 101 and C3H background

impaired coordination ( J:88023 )

♂ • Background Sensitivity: locomotor activity on an accelerating rotarod is impaired; mutants on a C57BL/6NCrl background are more impaired than mutants on a 101 and C3H background

decreased locomotor activity ( J:88023 )

♂

seizures ( J:88023 )

♂ • Background Sensitivity: mice on C57BL/6Ncrl genetic background develop seizures

nervous system

seizures ( J:88023 )

♂ • Background Sensitivity: mice on C57BL/6Ncrl genetic background develop seizures

abnormal brain development ( J:88023 )

♂ • Background Sensitivity: increase in the number and proliferation of NG2+ oligodendrocyte progenitors between P15-P30, to a greater extent than on 101 and C3H background

abnormal glial cell morphology ( J:88023 )

♂ • Background Sensitivity: increase in the number of apoptotic glia, with a greater increase on the C57BL/6NCrl background than on a 101 and C3H background

astrocytosis ( J:88023 )

♂

demyelination ( J:88023 )

♂ • Background Sensitivity: increased severity of demylination on a C57BL/6NCrl genetic background relative to mice on a mixed genetic background involving 101 and C3H

growth/size/body

decreased body weight ( J:88023 )

♂ • Background Sensitivity: decreased body weight on the C57BL/6NCrl background but not a 101 and C3H background