Human Disease and Mouse Model Detail

Human Disease

Term: Hemoglobin--Alpha Locus 1; HBA1
OMIM ID: 141800

Synonyms

3-Prime Alpha-Globin Gene

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...

Hba-a1	HBA2
Hba-x	HBZ

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

Hba-a2

HBA1

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

Transgenes and
other mutation types

Hba

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Hba-a1^tm1Led/Hba-a1^tm1Led		involves: 129S6/SvEvTac	J:41934
Hba-a1^tm1Led/Hba-a1⁺ Hba-x^tm1Led/Hba-x⁺		involves: 129S6/SvEvTac * NIH Black Swiss	J:41934
Hba-a1^tm1Led/Hba-a1^tm1Led		involves: 129S6/SvEvTac * NIH Black Swiss	J:41934
Hba-a1^tm1Led/Hba-a1⁺		involves: 129S6/SvEvTac * NIH Black Swiss	J:41934
Hba-a1^tm1Led/Hba-a1⁺		involves: 129S6/SvEvTac	J:41934
Hba-a1^tm1Ywk/Hba^th-J		involves: 129X1/SvJ * C57BL/6J	J:35018
Hba-a1^tm1Ywk/Hba-a1^tm1Ywk		involves: 129X1/SvJ * C57BL/6J	J:35018
Hba-a1^tm1Ywk/Hba-a1⁺		involves: 129X1/SvJ * C57BL/6J	J:35018
Hba-x^tm1Led/Hba-x⁺		involves: 129S6/SvEvTac * NIH Black Swiss	J:41934
Hba-x^tm1Led/Hba-x^tm1Led		involves: 129S6/SvEvTac * NIH Black Swiss	J:41934
Models involving transgenes or other mutation types.²
Hba-a1^tm1Ywk/Hba^th-J		involves: 129X1/SvJ * C57BL/6J	J:35018
Hba^tm1Paz/Hba^tm1Paz		involves: 129S7/SvEvBrd	J:28392

¹Human genes are associated with this disease. Mouse model genotypes do not 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.

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