Human Disease and Mouse Model Detail

Human Disease

Term: Pelizaeus-Merzbacher Disease; PMD
OMIM ID: 312080

Synonyms

Leukodystrophy, Hypomyelinating, 1; HLD1

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Plp1

PLP1

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Tg(Plp)66Kan

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Plp1^jp-msd/Y		involves: C3H * C57BL/6 * C57BL/10 * BALB/c	J:121540
Plp1^jp-rsh/Y		involves: C3H * C57BL/6 * STOCK Rb(1.3)1Bnr	J:121540
Plp1^tm1Frca/Y		B6.129-Plp1^tm1Frca	J:143305
Plp1^tm1Kan/?		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:146665
Models involving transgenes or other mutation types.²
Tg(Plp)66Kan/0		B6NCrl.Cg-Tg(Plp)66Kan	J:156106
Tg(Plp)66Kan/Tg(Plp)66Kan		B6NCrl.Cg-Tg(Plp)66Kan	J:156106

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Models involving transgenes or other mutation types may also appear in other sections of the table.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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