Family Identifier |
NMF267 |
Synonym(s) |
Roranmf267; Rorasg-3J; C57BL/6J-nmf267/J; JR#5047 |
Synopsis |
The mutants are small, with splayed hind limbs, and unable to walk continuously upright. |
Gene Symbol |
Rora (View MGI Record) |
Gene |
RAR-related orphan receptor alpha |
Allele Symbol |
Rora (View MGI Record) |
Allele |
neuroscience mutagenesis facility267 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Visible Mutants
; Movement/Neuromuscular Function
|
Phenotype Description |
The mutants are small and have splayed hind limbs, which can be observed at approximately 3.6 weeks of age (mean 3.7+/-2.2 weeks; n=18). When moving around they have a tendency to lean and eventually fall over to the side, at times sliding for some distance, before they regain a walking position. These mutants are fragile, and a colony needs to be maintained through ovarian transplants. Complementation analysis with B6.Cg-Rorasg/J (JR#2651) has shown NMF267 to be an allele of Rora (RAR-related orphan receptor alpha), i.e. a heterozygote x heterozygote mating resulted in 2 mutants in a total of 9 progeny.
|
Pathology Report |
Standard pathology work-up on five mutants (22- 46 days of age) revealed a disorganized Purkinje cell layer and a loss of granule cells. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 3 heterozygote x heterozygote matings produced 8 affected mice in a total of 27 progeny.
|
Chromosome |
9 |
Molecular Interval |
see Rora |
Map
|
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STATUS INFORMATION
|
Mutant Status |
Cryopreserved Embryos
|
Comments |
(45) NMF267 have been requested by and distributed to 4 investigators. |
Contact e-Mail Address |
nmf-mice@jax.org |