Phenotypes Associated with This Genotype

Genotype
MGI:5286582

• Allelic Composition: Cacna1g^tm1Hssh/Cacna1g^tm1Hssh; Gabra1^tm1.1Geh/Gabra1^tm1.1Geh
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

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

behavior/neurological

abnormal motor learning ( J:174980 )

• on a rotarod, mice fail to exhibit motor learning over several days unlike wild-type mice

tremors ( J:174980 )

• when moving or suspended by tail but not when relaxed

• mice exhibit stronger tremors than Cacna1g^tm1Hssh homozygotes

impaired coordination ( J:174980 )

• on a rotarod, mice exhibit reduced performance compared with wild-type mice and fail to exhibit motor learning over several days

nervous system

decreased Purkinje cell number ( J:174980 )

• mild at 8 months of age

homeostasis/metabolism

decreased physiological sensitivity to xenobiotic ( J:174980 )

• propranolol-treated mice exhibit impaired suppression of tremors compared with similarly treated wild-type mice

• however, mice exhibit normal anti-tremor response to ethanol treatment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
essential tremor		DOID:4990	OMIM:PS190300	J:174980