Nr2e3^rd7
Spontaneous Allele Detail

Summary

• Symbol: Nr2e3^rd7
• Name: nuclear receptor subfamily 2, group E, member 3; retinal degeneration 7
• MGI ID: MGI:1859180
• Synonyms: rd7
• Gene: Nr2e3 Location: Chr9:59850054-59867942 bp, - strand Genetic Position: Chr9, 32.35 cM
• Alliance: Nr2e3^rd7 page

Retinal spotting and degeneration in Nr2e3^rd7/Nr2e3^rd7 mice

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

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Other
• Mutation details: Conflicting 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

Disease models

Expression

In Mice Carrying this Mutation:	103 assay results 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Nr2e3 Mutation: 22 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: 35 reference(s)