Human Disease and Mouse Model Detail

Human Disease

Term: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
OMIM ID: 233700

Synonyms

Cgd, Autosomal Recessive Cytochrome B-Positive, Type I; Granulomatous Disease, Chronic, Due to NCF1 Deficiency; Ncf1, Deficiency of; Neutrophil Cytosol Factor 1, Deficiency of; P47-Phox, Deficiency of; SOC2, Deficiency of; Soluble Oxidase Component II, Deficiency of

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...

Ncf1

NCF1C

...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 are distinct.¹
Ncf1^m1J/Ncf1^m1J		B6.Cg-Dock7^m +/+ Lepr^db/J	J:83428
Ncf1^tm1Hbd/Ncf1^tm1Hbd		involves: 129/Sv	J:74593
Ncf1^tm1Shl/Ncf1^tm1Shl		involves: 129S2/SvPas * C57BL/6J	J:28267
Ncf1^tm1Shl/Ncf1^tm1Shl		B6.129S2-Ncf1^tm1Shl	J:111142

¹Human 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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