C57BL/6J-Rorb^hstp/J

Stock number: 006948
Research areas: Neurobiology Research, Sensorineural Research

Description

Mice homozygous for the high stepper mutation display an abnormal gait in which they pull their rear legs up to the body as they walk. They also draw the rear legs to the belly when picked up by the tail. Electroretinogram recordings are abnormal for all homozygotes on a pure C57BL/6J background or on a (C57BL/6J x CAST/EiJ)F2 background. Histology of the eye shows rosettes and misplaced ganglion cells by approximately 2 weeks of age.

Detailed description

Mice homozygous for the high stepper mutation display an abnormal gait in which they pull their rear legs up to the body as they walk. They also draw the rear legs to the belly when picked up by the tail. Electroretinogram recordings are abnormal for all homozygotes on a pure C57BL/6J background or on a (C57BL/6J x CAST/EiJ)F2 background. Histology of the eye shows rosettes and misplaced ganglion cells by approximately 2 weeks of age.

Development

The high stepper mutation arose spontaneously in 2003 in the inbred C57BL/6J colony at The Jackson Laboratory. It has been maintained on the C57BL/6J background ever since, primarily maintained by the backcross-intercross breeding scheme.

Allele

Symbol: Rorb^hstp
Name: high stepper
MGI accession ID: MGI:3846436
Generation method: Spontaneous
Synonyms: h1
Marker symbol: Rorb
Marker name: RAR-related orphan receptor beta
Marker synonyms: bA133M9.1; EIG15; hstp; MGC:38728; Nr1f2; Rorbeta; ROR-BETA; RZRB; RZR-beta
Chromosome: 19
Strain of origin: C57BL/6J
Molecular note: This spontaneous mutation is an approximately 326 kb duplication from Chromosome 19 19,010,565 bp to 19,336,747 bp (GRCm38), which includes the first exon of this gene. Transcript levels in the brain are decreased but not in the retina. Abnormal transcripts were not found by 5-prime RACE.