Human Disease and Mouse Model Detail

Human Disease

Term: Chylomicron Retention Disease; CMRD
OMIM ID: 246700

Synonyms

Anderson Disease; ANDD; Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells; Lipid Transport Defect of Intestine

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...

Pitpna

PITPNA

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

Sar1b

SAR1B

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Pitpna^{Gt(OST1152)Lex}/Pitpna^{Gt(OST1152)Lex}		involves: 129S5/SvEvBrd	J:85204
Pitpna^tm1Vab/Pitpna^tm1Vab		involves: 129S7/SvEvBrd	J:85204

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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