Human Disease and Mouse Model Detail

Human Disease

Term: Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A
OMIM ID: 256600

Synonyms

Inad; Neuroaxonal Dystrophy, Infantile; INAD1; Neurodegeneration, Pla2g6-Associated; PLAN; Seitelberger Disease

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...

Pla2g6

PLA2G6

...both mouse and human orthologous genes.

gnd	none identified
inad	none identified
nad	none identified

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Pla2g6^m1J/Pla2g6^m1J		C3H/HeJ-Pla2g6^m1J	J:183152
Pla2g6^m1Sein/Pla2g6^m1Sein		C57BL/6JJcl-Pla2g6^m1Sein	J:155328
Pla2g6^tm1Tsu/Pla2g6^tm1Tsu		involves: 129S2/SvPas * C57BL/6	J:174587
Pla2g6^tm1Turk/Pla2g6^tm1Turk		involves: 129X1/SvJ	J:131429
Models with phenotypic similarity to human disease where etiologies are distinct.²
gnd/gnd		C3H/HeJ-gnd	J:11718
inad/inad		C57BL/6-inad	J:97670
nad/nad		C(D2)-nad	J:156089

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.

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