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| Nomenclature |
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Symbol:
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Nr2e3rd7
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Name:
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nuclear receptor subfamily 2, group E, member 3;
retinal degeneration 7
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MGI ID: |
MGI:1859180 |
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Synonyms: |
rd7 |
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Gene:
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Nr2e3
Location:
Chr9:59942771-59960659 bp, - strand
Genetic Position: Chr9,
32.35 cM
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Fundus photographs, electroretinographs and histoogy of eyes of Nr2e3rd7/Nr2e3rd7 mice at 1 month, 5 months and 16 months of age.
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Other |
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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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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.)
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All: |
20 reference(s)
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Analysis Tools
