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Human Disease and Mouse Model Detail
Human Disease

Term: Melanoma, Cutaneous Malignant, Susceptibility to, 1; CMM1
OMIM ID: 155600

Synonyms B-K Mole Syndrome; Dysplastic Nevus Syndrome, Hereditary; DNS; Familial Atypical Mole-Malignant Melanoma Syndrome; FAMMM; Melanoma, Cutaneous Malignant; CMM MELANOMA, MALIGNANT; Melanoma, Familial; MLM
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...
Pten PTEN
  mousehuman...both mouse and human orthologous genes.
     
Braf BRAF
Ednrb EDNRB
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Transgenes and
other mutation types
Tg(Mt1-RET)304Ina   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 involve orthologs.1
Braftm1Mmcm/Braf+
Ptentm1Mro/Ptentm1Mro
Tg(Tyr-cre/ERT2)1Laru/0
4 B6.Cg-Braftm1Mmcm Ptentm1Mro Tg(Tyr-cre/ERT2)1Laru J:188523
Models with phenotypic similarity to human disease where etiologies are distinct.2
Ednrbtm1Ywa/Ednrb+
Tg(Mt1-RET)304Ina/0
  involves: 129S7/SvEvBrd * BALB/c * C57BL/6 J:155735
Models involving transgenes or other mutation types.3
Ednrbtm1Ywa/Ednrb+
Tg(Mt1-RET)304Ina/0
  involves: 129S7/SvEvBrd * BALB/c * C57BL/6 J:155735
Tg(Mt1-RET)304Ina/0   involves: BALB/c * C57BL/6 J:88074, J:155735

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
3Models involving transgenes or other mutation types may also appear in other sections of the table.
4Conditionally 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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory