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Human Disease and Mouse Model Detail
Human Disease

Term: Chromosome 5q Deletion Syndrome
OMIM ID: 153550

Synonyms 5q- Syndrome
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...
     
Cd74 CD74
Lmo2 LMO2
Smim3 SMIM3
Trp53 TP53
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Rps14 RPS14
  human...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
Smim3tm1Anjm/Smim3+
Cd74tm1Anjm/Cd74+
Lmo2tm2(cre)Thr/Lmo2+
Trp53+/Trp53+		 3 involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 J:155870
Smim3tm1Anjm/Smim3+
Cd74tm1Anjm/Cd74+
Lmo2tm2(cre)Thr/Lmo2+		 3 involves: 129P2/OlaHsd * C57BL/6 J:155870
No similarity to the expected human disease phenotype was found.2
NOT Del(11Nmu2r-Sparc)2Anjm/+
Del(11Sparc-Gpx3)91Anjm/+		   involves: 129P2/OlaHsd * C57BL/6 J:155870
NOT Smim3tm1Anjm/Smim3+
Cd74tm1Anjm/Cd74+
Lmo2tm2(cre)Thr/Lmo2+
Trp53tm1Brd/Trp53tm1Brd		 3 involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 J:155870

1Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
2One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.
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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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory