Human Disease and Mouse Model Detail

Human Disease

Term: Bloom Syndrome; BLM
OMIM ID: 210900

Synonyms

BS; BLS

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...

Blm

BLM

...both mouse and human orthologous genes.

Apc

APC

...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 involve orthologs.¹
Apc^Min/Apc⁺ Blm^tm1Grdn/Blm⁺		involves: 129P2/OlaHsd * 129S/SvEv * Black Swiss * C57BL/6J	J:79058
Blm^tm1Ches/Blm^tm3Brd		involves: 129S/SvEv * C57BL/6 * NIH Black Swiss	J:86827
Blm^tm1Ches/Blm^tm1Ches		involves: 129S6/SvEvTac * NIH Black Swiss	J:50843
Blm^tm1Ches/Blm^tm4Ches Tg(Hsp70-1-cre)6Arge/0	2	involves: 129S6/SvEvTac * C57BL/6 * CBA	J:112115
Blm^tm1Ches/Blm^tm4Ches Tg(LGB-cre)74Acl/0	2	involves: 129S6/SvEvTac * C57BL/6 * CBA * SJL	J:112115
Blm^tm1Grdn/Blm⁺		involves: 129P2/OlaHsd * Black Swiss	J:79058
Blm^tm3Brd/Blm^tm3Brd		involves: 129S7/SvEvBrd * C57BL/6	J:66261

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Conditionally 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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