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Allele : Nr2e3<rd7> nuclear receptor subfamily 2, group E, member 3; retinal degeneration 7

Primary Identifier  MGI:1859180 Allele Type  Spontaneous
Attribute String  Null/knockout Gene  Nr2e3
Inheritance Mode  Recessive Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Other
  • synonyms:
  • rd7,
  • rd7
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

7 Carried By

0 Driven By

38 Publication categories