Phenotypes associated with this allele

• Allele Symbol: Plp1^jp-msd
• Allele Name: myelin synthesis deficiency
• Allele ID: MGI:1856066
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Plp1^jp-msd/Plp1^jp-msd	involves: BALB/c * C57BL/6J * C57BL/10	MGI:4443053
cx2	Casp12^tm1Yuan/Casp12^tm1Yuan Plp1^jp-msd/Y	involves: 129S4/SvJae * C3H * C57BL/6 * C57BL/10 * BALB/c	MGI:3711156
ot3	Plp1^jp-msd/Y	B6C3-Eda^Ta Plp1^jp-msd	MGI:4454784
ot4	Plp1^jp-msd/Y	involves: BALB/c * C3H * C57BL/6 * C57BL/10	MGI:3711151
ot5	Plp1^jp-msd/Y	involves: BALB/c * C57BL/6J * C57BL/10	MGI:4443052
ot6	Plp1^jp-msd/Y	involves: C57BL/10Sn * BALB/cJ	MGI:4443323

Genotype
MGI:4443053

hm1

• Allelic Composition: Plp1^jp-msd/Plp1^jp-msd
• Genetic Background: involves: BALB/c * C57BL/6J * C57BL/10

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

mortality/aging

premature death ( J:159450 )

♀ • Background Sensitivity: on a predominantly C57BL/6J background mutants can survive to 30 days whereas on the original B10.C-H7^b/(47N)Sn background they die by 18 to 23 days of age

nervous system

abnormal myelination ( J:159450 )

♀ • brain extracts from 8 to 26 days of age show reduced 3'-phosphoadenosine-5'-phosphosulphate cerebroside sulphotransferase activity

Genotype
MGI:3711156

cx2

• Allelic Composition: Casp12^tm1Yuan/Casp12^tm1Yuan; Plp1^jp-msd/Y
• Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6 * C57BL/10 * BALB/c

mortality/aging

premature death ( J:121540 )

♂ • mice begin to die at P24 and are all dead by P30

cellular

increased apoptosis ( J:121540 )

♂ • similar increase in apoptosis levels as seen in Plp1^jp-msd/Y mice (average tunnel count of 78+/-6) but is greater than in Casp12^tm1Yuan homozygotes

Genotype
MGI:4454784

ot3

• Allelic Composition: Plp1^jp-msd/Y
• Genetic Background: B6C3-Eda^Ta Plp1^jp-msd

growth/size/body

decreased body weight ( J:7157 )

♂

behavior/neurological

tremors ( J:7157 )

♂

nervous system

demyelination ( J:7157 )

♂ • 3.6% of optic nerve axons are myelinated

Genotype
MGI:3711151

ot4

• Allelic Composition: Plp1^jp-msd/Y
• Genetic Background: involves: BALB/c * C3H * C57BL/6 * C57BL/10

mortality/aging

premature death ( J:121540 )

♂ • mice begin to die at P24 and are all dead by P30

cellular

increased apoptosis ( J:121540 )

♂ • average tunnel count of 74+/-4

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

Genotype
MGI:4443052

ot5

• Allelic Composition: Plp1^jp-msd/Y
• Genetic Background: involves: BALB/c * C57BL/6J * C57BL/10

mortality/aging

premature death ( J:159450 )

♂ • Background Sensitivity: on a predominantly C57BL/6J background mutants can survive to 30 days whereas on the original B10.C-H7^b/(47N)Sn background they die by 18 to 23 days of age

nervous system

abnormal myelination ( J:159450 )

♂ • brain extracts from 8 to 26 days of age show reduced 3'-phosphoadenosine-5'-phosphosulphate cerebroside sulphotransferase activity

Genotype
MGI:4443323

ot6

• Allelic Composition: Plp1^jp-msd/Y
• Genetic Background: involves: C57BL/10Sn * BALB/cJ

mortality/aging

postnatal lethality, complete penetrance ( J:5170 )

♂ • hemizygous males die at approximately 18 to 23 days of age

behavior/neurological

tremors ( J:5170 )

♂

seizures ( J:5170 )

♂

nervous system

seizures ( J:5170 )

♂

abnormal myelination ( J:5170 )

♂ • the lipid composition of the central nervous system has a deficiency of cholesterol and galactolipid and lower than normal ratio of saturated to unsaturated fatty acids

demyelination ( J:5170 )

♂ • throughout the brain and spinal cord there is a paucity of myelin and the white fiber tracts appear as negative images although they contain intact axons and the peripheral nerves are normally myelinated