Orphan nuclear receptor ROR alpha-deficient mice display the cerebellar defects of staggerer

Mech Dev. 1998 Jan;70(1-2):147-53. doi: 10.1016/s0925-4773(97)00187-1.

Abstract

It has recently been shown that the neurological mutant mouse staggerer (sg) harbors a deletion within the Rora gene that encodes the orphan nuclear receptor ROR alpha. This deletion removes an exon encoding part of the ligand binding domain of the putative receptor, generating an ROR alpha truncated protein (ROR alpha(sg)). It is unknown whether sg acts as a null or highly hypomorphic allele. To address this question, we have generated a null mutation of Rora by targeted disruption of its DNA binding domain in ES cells. The Rora-/- mice are viable but display tremor, body imbalance, small size and die between 3-4 weeks, similar to the sg mouse. Histological examination of the cerebellum of Rora-/- and sg mice showed similar defects, including small size and fewer ectopically localized Purkinje cells. Northern blot analysis of cerebellar RNA showed that ROR alpha transcripts are still expressed in the Rora-/- and sg mutants, although with altered mobilities. However, the cerebellum of the Rora-/- mutant does not express the ROR alpha protein. Attempts to complement the defect of the Rora-/- with sg failed, demonstrating conclusively that the sg defects are caused by the absence of functional ROR alpha.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Cerebellum / metabolism*
  • Cerebellum / pathology*
  • Female
  • Gene Targeting
  • Genetic Complementation Test
  • Genetic Vectors
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout / anatomy & histology
  • Mice, Knockout / genetics*
  • Mice, Knockout / metabolism*
  • Mice, Neurologic Mutants / anatomy & histology
  • Mice, Neurologic Mutants / genetics*
  • Mice, Neurologic Mutants / metabolism*
  • Nerve Tissue Proteins / deficiency*
  • Nerve Tissue Proteins / genetics*
  • Nuclear Receptor Subfamily 1, Group F, Member 1
  • Phenotype
  • Receptors, Cytoplasmic and Nuclear / deficiency*
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Sequence Deletion
  • Trans-Activators / deficiency*
  • Trans-Activators / genetics*

Substances

  • Nerve Tissue Proteins
  • Nuclear Receptor Subfamily 1, Group F, Member 1
  • Receptors, Cytoplasmic and Nuclear
  • Rora protein, mouse
  • Trans-Activators