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Nr2e3rd7
Spontaneous Allele Detail
Nomenclature
Symbol: Nr2e3rd7
Name: nuclear receptor subfamily 2, group E, member 3; retinal degeneration 7
MGI ID: MGI:1859180
Synonyms: rd7
Gene: Nr2e3  Location: Chr9:59942771-59960659 bp, - strand  Genetic Position: Chr9, 32.35 cM
Retinal spotting and degeneration in Nr2e3rd7/Nr2e3rd7 mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Spontaneous
Mutation:    Other
 
Mutation detailsConflicting reports exist on the nature of the molecular mutation in this gene. According to one report, this mutation is a deletion of exons 4 and 5, resulting in the absence of 380 bp from the transcript. The predicted protein expressed from this allele would lack 127 amino acids including sequences corresponding to the DNA binding domain. The deletion also introduces a frameshift and creates a premature stop codon. A second report states that an antisense insertion of L1 into exon5 prevents the excision of intron 5 and blocks the release of precursor from its site of synthesis. For details, see the associated references. (J:62171, J:112030)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 103 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Nr2e3 Mutation:  2 strains or lines available
References
Original:  J:55816 Chang B, et al., A new mouse model of retinal dysplasia and degeneration (rd7). Invest Ophthalmol Vis Sci. 1998;39(4):S880 (Abstr.)
All:  23 reference(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
01/20/2015
MGI 5.21
The Jackson Laboratory