Human Disease and Mouse Model Detail

Human Disease

Term: Tangier Disease; TGD
OMIM ID: 205400

Synonyms

Analphalipoproteinemia; High Density Lipoprotein Deficiency, Tangier Type; High Density Lipoprotein Deficiency, Type 1; HDLDT1

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...

Abca1

ABCA1

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Tg(APOA1)427Bres		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(CMV-EGFP,Rnu6-siAbca1)#Wcyy

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Abca1^tm1.1Jp/Abca1^tm1.1Jp		involves: 129S6/SvEvTac * C57BL/6	J:98093
Abca1^tm1Blt/Abca1^tm1Blt		C57BL/6-Abca1^tm1Blt	J:95088
Abca1^tm1Jdm/Abca1^tm1Jdm		DBA/1LacJ-Abca1^tm1Jdm	J:61679
Abca1^tm1Jp/Abca1^tm1Jp Tg(Alb-cre)21Mgn/0	3	involves: 129S6/SvEvTac * B6.Cg-Tg(Alb-cre)21Mgn/J	J:98093
Abca1^tm1Wpfl/Abca1^tm1Wpfl		involves: 129P2/OlaHsd * C57BL/6J	J:64390
Abca1^tm2Jp/Abca1⁺ Tg(APOA1)427Bres/?		involves: 129X1/SvJ * C57BL/6J * CBA/J	J:104719
Abca1^tm2Jp/Abca1^tm2Jp Tg(APOA1)427Bres/?		involves: 129X1/SvJ * C57BL/6J * CBA/J	J:104719
Models involving transgenes or other mutation types.²
Abca1^tm2Jp/Abca1⁺ Tg(APOA1)427Bres/?		involves: 129X1/SvJ * C57BL/6J * CBA/J	J:104719
Abca1^tm2Jp/Abca1^tm2Jp Tg(APOA1)427Bres/?		involves: 129X1/SvJ * C57BL/6J * CBA/J	J:104719
Tg(ALB-cre,CMV-rtTA)#Wcyy/0 Tg(CMV-EGFP,Rnu6-siAbca1)#Wcyy/0	3	involves: ICR	J:93624

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.
³Conditionally targeted allele(s)

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