Phenotypes Associated with This Genotype

Genotype
MGI:2174717

• Allelic Composition: Rora^sg/Rora^sg
• Genetic Background: involves: obese stock

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:13140 )

• about 50% of mutants die by weaning

nervous system

abnormal brain morphology ( J:13140 )

abnormal cochlear VIII nucleus morphology ( J:121314 )

• cochlear nuclei are reduced in volume and severely malformed

• dendritic spines are rare on cartwheel cells at 1 month of age

• cartwheel cells are rarely seen in adults

abnormal olfactory bulb morphology ( J:55239 )

• fewer astrocytes found

• dendro-dendritic asymmetrical synapses are abundant

abnormal olfactory bulb layer morphology ( J:55239 )

abnormal olfactory bulb external plexiform layer morphology ( J:55239 )

• thinner than controls

• lower density of secondary dendrites

• large, empty, intercellular spaces

abnormal olfactory bulb glomerular layer morphology ( J:55239 )

• thinner than controls

• glomerular surface reduced about 15%

• reduced cell number and intercellular space

• reduced number of interneuronal relays

abnormal olfactory bulb granule cell layer morphology ( J:55239 )

• composed of several layers of anaxonal interneurons with smaller than normal cell bodies

• nuclear size is smaller than controls

abnormal olfactory bulb granule cell morphology ( J:55239 )

• pycnotic nuclei

• vacuolations and ruptured membranes

abnormal olfactory bulb internal plexiform layer morphology ( J:55239 )

• thinner than controls

• less distinct

abnormal olfactory bulb mitral cell layer morphology ( J:55239 )

• somewhat discontinuous

abnormal olfactory bulb outer nerve layer morphology ( J:55239 )

• glial cells with more processes ensheathing axons in the nerve layer

small olfactory bulb ( J:55239 )

• volume slightly reduced

abnormal cerebellum morphology ( J:6068 , J:13140 )

• adult cerebellar cell surface with embryonic characteristics (J:6068)

• cells agglutinable with wheat germ agglutinin but not wit h Con-A (J:6068)

• cerebellum of adults shows tiny folia with indistinct fissures (J:13140)

• cerebellum is less than one-third the size of wild-type littermates (J:13140)

abnormal cerebellar foliation ( J:13140 )

abnormal cerebellar layer morphology ( J:5304 )

abnormal Purkinje cell morphology ( J:121314 )

• cells are randomly oriented

• poorly elaborated dendritic trees

abnormal cerebellar granule layer morphology ( J:13140 )

• granular cell layer displays a paucity of cells in mutants

abnormal cerebellar granule cell morphology ( J:5304 )

• external granule layer less developed at birth

• reduced rate of cell proliferation at 1 and 5 days of age

• cells migrate prematurely from the external granule layer having undergone fewer cell divisions

• conspicuous differences in the internal granule layer at 10 days of age

decreased cerebellar granule cell number ( J:5304 )

• 25% reduction in granule cells in the internal granule cell layer

abnormal cerebellar molecular layer ( J:13140 )

thin cerebellar molecular layer ( J:13140 )

small cerebellum ( J:5304 , J:13140 )

• weight is significantly less than controls even before neurological symptoms appear (J:5304)

• less than half of control weight at 5 days of age (J:5304)

abnormal nervous system physiology ( J:28478 )

• immunoreactive somatostatin is significantly elevated in both the cerebrum and in the cerebellum

behavior/neurological

abnormal motor learning ( J:46854 )

• mice have an impaired ability to learn how to hang onto a rotating rod

• mice hang onto the rod as opposed the walking strategy WT mice exclusively use

• scores do not improve with 10 days of training

abnormal motor capabilities/coordination/movement ( J:13140 )

limb grasping ( J:46854 )

• is observed in all mice

tremors ( J:13140 )

• mild tremors accompany initiation of movement

ataxia ( J:13140 , J:18435 )

• treatment with a thyrotropin releasing hormone analog improves ataxia (fewer falls in a given distance travelled) (J:18435)

impaired coordination ( J:46854 , J:13140 )

• mice fall off an elevated rod on average of 13 seconds compared to over 3 minutes for WT mice (J:46854)

decreased grip strength ( J:46854 )

• mice have a mean hanging time of 12 seconds compared to over 3 minutes for WT mice

abnormal limb posture ( J:13140 )

• some animals have hindlimbs held abducted and everted at 45 degrees at rest

abnormal gait ( J:13140 )

• gait is shuffling and hesitant, interrupted every few steps by lurching motions side-to-side

• abnormal gait is apparent at ~2 weeks of age

decreased locomotor activity ( J:13140 )

• mutants remain stationary much more than littermates

growth/size/body

decreased body size ( J:13140 )

• mutants are smaller than littermates

homeostasis/metabolism

abnormal hormone level ( J:28467 )

• prothyrotropin releasing hormone levels are elevated in the thalamus, cerebellum, brainstem, and spinal cord