Phenotypes Associated with This Genotype

Genotype
MGI:6471172

• Allelic Composition: Glra1^m1Cpai/Glra1^m1Cpai
• Genetic Background: involves: 129 * C57BL/6

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

mortality/aging

premature death ( J:248717 )

• mice die between 3 and 6 weeks of age

growth/size/body

decreased body size ( J:248717 )

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:248717 )

• mice begin to develop a severe motor defect by 2 weeks of age

impaired righting response ( J:248717 )

• mice show prolonged righting time at P22-P28

limb grasping ( J:248717 )

• mice show both forelimb and hindlimb clasping when picked up by the tail

tremors ( J:248717 )

• during episodes of tremor, mice show a hunched, stiff posture

impaired coordination ( J:248717 )

• mice perform very poorly on the rotarod

• treatment with diazepam improves performance on the rotarod

abnormal tail movements ( J:248717 )

• twitchy tail

muscle

muscle spasm ( J:248717 )

nervous system

abnormal CNS synaptic transmission ( J:248717 )

• mice exhibit impaired glycinergic synaptic transmission in PreBotC neurons

abnormal inhibitory postsynaptic currents ( J:248717 )

• when strychnine-sensitive glycinergic inhibitory postsynaptic currents (IPSCs) are evoked at different stimulus intensities in PreBotC neurons at P18-P24, the input-output relationship is flattened for all stimulus intensities

• brainstem nuclei show reduced current amplitudes and lower frequencies of spontaneous IPSCs

abnormal miniature inhibitory postsynaptic currents ( J:248717 )

• mIPSC recordings from PreBotC neurons show lower frequency, smaller amplitudes, and accelerated decay

• however, GABAergic spIPSCs do not differ in frequency and no differences in the number of motoneurons is seen in the lumbar spinal cord

decreased miniature inhibitory postsynaptic current amplitude ( J:248717 )

• in PreBotC neurons

decreased miniature inhibitory postsynaptic current frequency ( J:248717 )

• in PreBotC neurons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperekplexia		DOID:0060695	OMIM:PS149400	J:248717