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Human Disease and Mouse Model Detail
Human Disease

Term: Night Blindness, Congenital Stationary, Autosomal Dominant 2; CSNBAD2
OMIM ID: 163500

Synonyms Night Blindness, Congenital Stationary, Rambusch Type
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...
Pde6b PDE6B
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Pde6batrd1/Pde6batrd1   involves: BALB/cAnN * C3H/HeN J:75964
Pde6batrd1/Pde6brd1   involves: BALB/cAnN * C3H/HeN J:75964
Pde6batrd2/Pde6brd1   involves: BALB/cAnN * C3H/HeN J:75964
Pde6batrd2/Pde6batrd2   involves: BALB/cAnN * C3H/HeN J:75964
Pde6batrd3/Pde6batrd3   involves: BALB/cAnN * C3H/HeN J:75964
Pde6batrd3/Pde6brd1   involves: BALB/cAnN * C3H/HeN J:75964
Pde6brd1-1H/Pde6brd1   involves: BALB/cAnN * C3H/HeN J:75964
Pde6brd1-2H/Pde6brd1   involves: BALB/cAnN * C3H/HeN J:75964
Pde6brd1-2J/Pde6brd1-2J   C57BL/6J-Pde6brd1-2J/J J:82238
Pde6brd1-3H/Pde6brd1-3H   involves: BALB/cAnN * C3H/HeN J:75964
Pde6brd1-3H/Pde6brd1   involves: BALB/cAnN * C3H/HeN J:75964
Pde6brd1-4H/Pde6brd1-4H   involves: BALB/cAnN * C3H/HeN J:75964
Pde6brd1-4H/Pde6brd1   involves: BALB/cAnN * C3H/HeN J:75964
Pde6brd1/Pde6brd1   Not Specified J:24999

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

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