Human Disease and Mouse Model Detail

Human Disease

Term: Congenital Disorder of Glycosylation, Type IIA; CDG2A
OMIM ID: 212066

Synonyms

Alkuraya Syndrome; Carbohydrate-Deficient Glycoprotein Syndrome, Type II, Formerly; CDGS2, FORMERLY; Cdg IIA; CDGIIA; Mental Retardation, Growth Retardation, Prominent Columella, and Open Mouth

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...

Mgat2

MGAT2

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Mgat2^tm1.1Jxm/Mgat2^tm1.1Jxm		involves: 129S1/Sv * 129X1/SvJ * ICR	J:80661
Mgat2^tm1.1Jxm/Mgat2^tm1.1Jxm		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:80661

¹Human genes are associated with this disease. Mouse model genotypes 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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